710 results match your criteria Rubinstein-Taybi Syndrome


Two cases of neuroangiostrongyliasis: A rare disease because rarely considered or rarely diagnosed?

J Paediatr Child Health 2019 Apr 3. Epub 2019 Apr 3.

Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.

Aim: The rat lungworm, Angiostrongylus cantonensis, is well established in eastern Australia, where it is the almost exclusive cause of human eosinophilic meningoencephalitis (EME). While neuroangiostrongyliasis can result in severe morbidity or death, its diagnosis requires a high index of clinical suspicion among medical practitioners. Prevention requires a high level of public awareness. Read More

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http://dx.doi.org/10.1111/jpc.14461DOI Listing
April 2019
1 Read

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000268DOI Listing

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Am J Med Genet A 2019 Mar 20. Epub 2019 Mar 20.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

CREBBP loss-of function variants cause Rubinstein-Taybi syndrome (RTS). There have been two separate reports of patients with missense variants in exon 30 or 31 of CREBBP in individuals lacking the characteristic facial and limb dysmorphism associated with RTS. Frequent features in this condition include variable intellectual disability, short stature, autistic behavior, microcephaly, feeding problems, epilepsy, recurrent upper airway infections, and mild hearing impairment. Read More

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http://dx.doi.org/10.1002/ajmg.a.61131DOI Listing
March 2019
1 Read

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Hum Genet 2019 Mar 26;138(3):257-269. Epub 2019 Feb 26.

Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. Read More

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http://dx.doi.org/10.1007/s00439-019-01985-yDOI Listing
March 2019
2 Reads

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Feb 14. Epub 2019 Feb 14.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000262DOI Listing
February 2019
1 Read

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Orphanet J Rare Dis 2019 02 15;14(1):45. Epub 2019 Feb 15.

Center for Medical Genetics, School of life sciences, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, People's Republic of China.

Background: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis rapidly and detect the mosaic mutation when only sanger sequencing is taken. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377774PMC
February 2019
8 Reads

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 Apr 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. Read More

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http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019
3 Reads

Anaesthetic implications of Rubinstein-Taybi syndrome.

J Clin Anesth 2019 Jan 23;56:43-44. Epub 2019 Jan 23.

Dept. of Anaesthesiology, Pain Medicine and Critical Care, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.jclinane.2018.12.056DOI Listing
January 2019

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

BMC Med Genet 2019 Jan 11;20(1):12. Epub 2019 Jan 11.

Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia.

Background: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

Case Presentation: We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0747-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330443PMC
January 2019
7 Reads

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Clin Genet 2019 Mar 11;95(3):420-426. Epub 2019 Jan 11.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early childhood but generally not suspected during antenatal period. Read More

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http://doi.wiley.com/10.1111/cge.13493
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http://dx.doi.org/10.1111/cge.13493DOI Listing
March 2019
15 Reads

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Clin Exp Dermatol 2019 Jan 6. Epub 2019 Jan 6.

Department of Dermatology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability. Read More

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http://doi.wiley.com/10.1111/ced.13871
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http://dx.doi.org/10.1111/ced.13871DOI Listing
January 2019
14 Reads

Main genetic entities associated with supernumerary teeth.

Arch Argent Pediatr 2018 12;116(6):437-444

Unidad de Odontología, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma, Italia.

Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. Read More

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http://dx.doi.org/10.5546/aap.2018.eng.437DOI Listing
December 2018
14 Reads

[Study of point mutations in known genes among patients with unexplained intellectual disability or developmental delay].

Zhonghua Yi Xue Za Zhi 2018 Nov;98(42):3426-3432

Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing 100020, China.

To analyze the point mutations in known genes among patients with unexplained intellectual disability (ID) or developmental retardation (DD). A total of 120 outpatients with ID or DD were recruited in the Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics between September 2015 and April 2017. Target gene sequencing was used to screen the candidate gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2018.42.010DOI Listing
November 2018
2 Reads

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Cytogenet Genome Res 2018 16;156(4):191-196. Epub 2018 Nov 16.

Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as "a novel genetic disorder. Read More

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http://dx.doi.org/10.1159/000494871DOI Listing
February 2019
2 Reads

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Front Genet 2018 10;9:464. Epub 2018 Oct 10.

Humanitas Clinical and Research Center, Rozzano, Italy.

Biallelic mutations in the ovarian tumor domain-containing 6B () gene, coding for a deubiquitinating enzyme, were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide. We here report on a 6-year-old Italian girl, presenting mild intellectual disability, speech and motor delay, and recurrent seizures, who came to our attention after being screened for genes responsible for Rubinstein-Taybi syndrome, Kabuki syndrome, and epilepsy. We hence submitted the proband's DNA to whole-exome sequencing, disclosing two candidate heterozygous splicing mutations in the gene: c. Read More

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https://www.frontiersin.org/article/10.3389/fgene.2018.00464
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http://dx.doi.org/10.3389/fgene.2018.00464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192414PMC
October 2018
15 Reads

The Epigenetic Factor CBP Is Required for the Differentiation and Function of Medial Ganglionic Eminence-Derived Interneurons.

Mol Neurobiol 2018 Oct 17. Epub 2018 Oct 17.

Instituto de Neurociencias (Universidad Miguel Hernández - Consejo Superior de Investigaciones Científicas), Av. Santiago Ramón y Cajal s/n. Sant Joan d'Alacant. 03550, Alicante, Spain.

The development of inhibitory circuits depends on the action of a network of transcription factors and epigenetic regulators that are critical for interneuron specification and differentiation. Although the identity of many of these transcription factors is well established, much less is known about the specific contribution of the chromatin-modifying enzymes that sculpt the interneuron epigenome. Here, we generated a mouse model in which the lysine acetyltransferase CBP is specifically removed from neural progenitors at the median ganglionic eminence (MGE), the structure where the most abundant types of cortical interneurons are born. Read More

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http://link.springer.com/10.1007/s12035-018-1382-4
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http://dx.doi.org/10.1007/s12035-018-1382-4DOI Listing
October 2018
7 Reads

Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature.

Orbit 2018 Sep 5:1-3. Epub 2018 Sep 5.

b Govindram Seksaria Institute of Dacryology , L.V. Prasad Eye Institute , Hyderabad , India.

Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. Lacrimal drainage anomalies are not uncommon in this syndrome. We present a patient with Rubinstein-Taybi syndrome with bilateral congenital nasolacrimal duct obstruction and left-sided grossly dilated nasolacrimal duct. Read More

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https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
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http://dx.doi.org/10.1080/01676830.2018.1515961DOI Listing
September 2018
4 Reads

Spontaneous Keloids: A Literature Review.

Dermatology 2018 16;234(3-4):127-130. Epub 2018 Aug 16.

Background: Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature. Read More

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http://dx.doi.org/10.1159/000491924DOI Listing
December 2018
1 Read

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Pediatr Allergy Immunol 2018 11 28;29(7):776-781. Epub 2018 Sep 28.

Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.

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http://doi.wiley.com/10.1111/pai.12968
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http://dx.doi.org/10.1111/pai.12968DOI Listing
November 2018
6 Reads

Does Clarithromycin Cause Hearing Loss? A 12-Year Review of Clarithromycin Therapy for Nontuberculous Mycobacterial Lymphadenitis in Children.

Ann Otol Rhinol Laryngol 2018 Oct 21;127(10):687-693. Epub 2018 Jul 21.

1 Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.

Objective(s): The objective was to describe the characteristics of hearing losses documented in patients treated with clarithromycin alone for nontuberculous mycobacterial NTM lymphadenitis in a pediatric tertiary care center over a 12-year period.

Methods: An institutional review board (IRB) approval was obtained. A database search was performed using the ICD-10 diagnosis codes 31. Read More

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http://dx.doi.org/10.1177/0003489418788112DOI Listing
October 2018
11 Reads

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Stem Cell Res 2018 07 18;30:175-179. Epub 2018 Jun 18.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche -Istituto Auxologico Italiano-IRCCS, Milan, Italy. Electronic address:

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping. Read More

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http://dx.doi.org/10.1016/j.scr.2018.06.009DOI Listing
July 2018
1 Read

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem Cell Res 2018 07 30;30:130-140. Epub 2018 May 30.

Laboratory of Medical Cytogenetics and Molecular Genetics, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, 20145 Milano, Italy. Electronic address:

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. No RSTS in vitro induced Pluripotent Stem Cell (iPSC)-neuronal model is available yet to achieve mechanistic insights on cognitive impairment of RSTS patients. We established iPSC-derived neurons (i-neurons) from peripheral blood cells of three CREBBP- and two EP300-mutated patients displaying different levels of intellectual disability, and four unaffected controls. Read More

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http://dx.doi.org/10.1016/j.scr.2018.05.019DOI Listing
July 2018
8 Reads

Septate Uterus in a Girl with Rubinstein-Taybi Syndrome.

Case Rep Pediatr 2018 8;2018:7878156. Epub 2018 Apr 8.

Department of Gynecology and Obstetrics, Hospital Dr. Nélio Mendonça, Serviço de Saúde da Região Autónoma da Madeira, E.P.E. (SESARAM), Funchal, Portugal.

Rubinstein-Taybi syndrome is an extremely rare plurimalformative condition that can affect any organ. However, reports regarding gynecological problems are unusual. We report the first case of a septate uterus in an adolescent with this syndrome, in agreement with the American Society for Reproductive Medicine (ASRM) and the Congenital Uterine Malformations by Expert (CUME) criteria for uterine septum. Read More

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http://dx.doi.org/10.1155/2018/7878156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911335PMC
April 2018
2 Reads

Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome.

J Pediatr Genet 2018 Jun 29;7(2):86-91. Epub 2017 Dec 29.

Department of Ophthalmology, Louisiana State University Health Sciences Center, Shreveport, Louisiana, United States.

A complete ophthalmic examination is not routinely performed on infants with Miller-Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13. Read More

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http://dx.doi.org/10.1055/s-0037-1612638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916799PMC

Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.

Neurosurgery 2018 Dec;83(6):1107-1118

Vivian L. Smith Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas.

Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

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http://dx.doi.org/10.1093/neuros/nyy121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235681PMC
December 2018
6 Reads

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Am J Med Genet B Neuropsychiatr Genet 2018 06 10;177(4):406-415. Epub 2018 Apr 10.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65-70%; specifically, microdeletions or mutations in the CREBBP or EP300 genes can be found. Much is known about its clinical features and health-care protocols, but some areas of clinical knowledge are currently unsolved. Read More

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http://dx.doi.org/10.1002/ajmg.b.32628DOI Listing
June 2018
8 Reads

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

Hum Genome Var 2018 29;5:18011. Epub 2018 Mar 29.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

We describe an 8-year-old Japanese boy with a recurrent missense mutation in , c.593A>G, that is causative of Okur-Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. Read More

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http://dx.doi.org/10.1038/hgv.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874396PMC
March 2018
3 Reads

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Dev Cell 2018 03 15;44(6):709-724.e6. Epub 2018 Mar 15.

Center for Neuropathology, Ludwig-Maximilians-University, 81377 Munich, Germany; Research Institute Children's Cancer Center Hamburg, Martinistrasse 52, N63 (HPI), Hamburg 20251, Germany; Institute of Neuropathology, University Medical Center, Hamburg-Eppendorf, 20246 Hamburg, Germany; Department of Pediatric Hematology and Oncology, University Medical Center, Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf). Read More

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http://dx.doi.org/10.1016/j.devcel.2018.02.012DOI Listing
March 2018
35 Reads

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

BMC Med Genet 2018 03 5;19(1):36. Epub 2018 Mar 5.

Molecular Diagnostic Unit, Fundación Rioja Salud, Logroño, La Rioja, Spain.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. Read More

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http://dx.doi.org/10.1186/s12881-018-0548-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839060PMC
March 2018
6 Reads

Prolonged paralysis with atracurium use in a patient with Rubinstein-Taybi syndrome.

BMJ Case Rep 2018 Feb 22;2018. Epub 2018 Feb 22.

Medical Based Department, Universiti Malaysia Sabah, Kota Kinabalu, Sabah, Malaysia.

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder that occurs due to a microdeletion of chromosome 16p13. The craniofacial abnormalities in these patients may pose a challenge for anaesthetist performing tracheal intubation. However, there are no known reported cases of drug interaction with non-depolarising muscle relaxant in patients with RTS. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22269
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http://dx.doi.org/10.1136/bcr-2017-222692DOI Listing
February 2018
3 Reads

Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome.

Dermatol Online J 2018 Jan 15;24(1). Epub 2018 Jan 15.

Department of Dermatology, Graduate School of Medicine, Nagasaki University, Nagasaki, Japan Osaka Red Cross Hospital, Osaka, Japan.

Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma. Read More

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January 2018
3 Reads

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 04 20;176(4):862-876. Epub 2018 Feb 20.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. Read More

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http://dx.doi.org/10.1002/ajmg.a.38626DOI Listing
April 2018
16 Reads

Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish.

Biochim Biophys Acta Mol Basis Dis 2018 Apr 31;1864(4 Pt A):1203-1215. Epub 2018 Jan 31.

CSIR-Institute of Genomics & Integrative Biology, South Campus, New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), New Delhi 110025, India. Electronic address:

EP300 is a member of the EP300/CBP family of lysine acetyltransferases (KATs) with multiple roles in development and physiology. Loss of EP300/CBP activity in humans causes a very rare congenital disorder called Rubinstein Taybi Syndrome (RSTS). The zebrafish genome has two co-orthologs of lysine acetyltransferase EP300 (KAT3B) in zebrafish viz. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.01.029DOI Listing
April 2018
9 Reads

Perthes disease: A new finding in Floating-Harbor syndrome.

Am J Med Genet A 2018 03 31;176(3):703-706. Epub 2018 Jan 31.

Genetica Medica, Dip. Scienze della Salute, Università degli Studi di Milano, Milano, Italy.

Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. Read More

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http://dx.doi.org/10.1002/ajmg.a.38605DOI Listing
March 2018
6 Reads

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 03 23;176(3):597-608. Epub 2018 Jan 23.

Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. Read More

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http://dx.doi.org/10.1002/ajmg.a.38603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838508PMC
March 2018
2 Reads

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

Clin Cancer Res 2018 Apr 19;24(7):1594-1603. Epub 2018 Jan 19.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-17-1725DOI Listing
April 2018
20 Reads

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

Zhonghua Er Ke Za Zhi 2017 Nov;55(11):824-829

Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.

To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed. The physiological function of 13 disease genes and the molecular signaling pathways were also comparatively studied. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2017.11.007DOI Listing
November 2017
3 Reads

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Eur J Med Genet 2018 Mar 10;61(3):125-129. Epub 2017 Nov 10.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada. Electronic address:

Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1016/j.ejmg.2017.11.002DOI Listing
March 2018
20 Reads

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].

Zhongguo Dang Dai Er Ke Za Zhi 2017 Nov;19(11):1155-1158

Department of Pediatrics, First People's Hospital of Yunnan Province, Kunming 650032, China.

The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. Read More

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November 2017
5 Reads

Management of neuroendocrine tumor in a patient with Rubinstein-Taybi syndrome in chronic hemodialysis.

Nefrologia 2018 Jul - Aug;38(4):446-448. Epub 2017 Nov 8.

Servicio de Nefrología, Hospital el Bierzo, Ponferrada, León, España.

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http://dx.doi.org/10.1016/j.nefro.2017.09.002DOI Listing
April 2019
3 Reads

Epigenetic Etiology of Intellectual Disability.

J Neurosci 2017 11;37(45):10773-10782

Instituto de Neurociencias, Molecular Neurobiology Unit, s/n 03550, San Juan de Alicante, Alicante, Spain

Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. Read More

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.1840-1
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http://dx.doi.org/10.1523/JNEUROSCI.1840-17.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678009PMC
November 2017
10 Reads

Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein-Taybi Syndrome: Case Report and Review of the Literature.

World Neurosurg 2018 Jan 16;109:342-346. Epub 2017 Oct 16.

Department of Neurosurgery, University of Texas Health San Antonio, San Antonio, Texas, USA.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare, congenital syndrome that is known to be associated with neoplasms of various organ systems. Evaluation and treatment of such patients is challenging, given the cognitive delay and heterogeneity of pathologic presentations that define this syndrome.

Case Description: Presented here is a case of a patient with RSTS, diagnosed at birth, who presented with subtle symptoms of lethargy and a change in behavior. Read More

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http://dx.doi.org/10.1016/j.wneu.2017.10.030DOI Listing
January 2018
11 Reads

Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.

J Ultrasound Med 2018 02 16;37(2):531-534. Epub 2017 Aug 16.

Department of Gynecology and Obstetrics.

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http://dx.doi.org/10.1002/jum.14342DOI Listing
February 2018
7 Reads

Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome.

J Autism Dev Disord 2017 Nov;47(11):3321-3332

CHU de Bordeaux, Service de génétique médicale, Bordeaux, France.

Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. Read More

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http://dx.doi.org/10.1007/s10803-017-3259-1DOI Listing
November 2017
25 Reads

Hemoglobins emerging roles in mental disorders. Metabolical, genetical and immunological aspects.

Int J Dev Neurosci 2017 Oct 8;61:73-85. Epub 2017 Jul 8.

Department of Psychiatry, Bakirkoy Education and Research Hospital for Psychiatry, Turkey.

Hemoglobin (Hb) expression in the central nervous system is recently shown. Cooccurences of mental disorders (mainly bipolar disorder (BD) and tic disorders) with β- or α-thalassemia trait or erythrocytosis were witnessed, which may be due to peripheral or central hypoxia/hyperoxia or haplotypal gene interactions. β-Globin genes reside at 11p15. Read More

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http://dx.doi.org/10.1016/j.ijdevneu.2017.06.007DOI Listing
October 2017
20 Reads

Broad Thumb-Hallux Syndrome: A Diagnosis Made on Clinical Findings.

J Clin Diagn Res 2017 May 1;11(5):ZJ05-ZJ06. Epub 2017 May 1.

Senior Lecturer, Department of Oral Medicine and Radiology, Rajas Dental College (Under the M.G.R Medical University), Kavalkinaru Junction, Tirunelvelli, India.

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http://dx.doi.org/10.7860/JCDR/2017/24033.9805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483832PMC
May 2017
102 Reads

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

Clin Cancer Res 2017 Jun;23(12):e83-e90

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-17-0631DOI Listing
June 2017
73 Reads

Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Authors:
Edward Korzus

Adv Exp Med Biol 2017 ;978:39-62

Department of Psychology and Neuroscience Program, University Of California Riverside, 900 University Ave, Riverside, CA, 92521, USA.

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue. Read More

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http://dx.doi.org/10.1007/978-3-319-53889-1_3DOI Listing
September 2017
22 Reads

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.

Cureus 2017 Apr 11;9(4):e1151. Epub 2017 Apr 11.

Department of Neurosurgery, Cedars-Sinai Medical Center.

Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches. Read More

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http://www.cureus.com/articles/6091-rubinstein-taybi-syndrom
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http://dx.doi.org/10.7759/cureus.1151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426823PMC
April 2017
36 Reads