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Am J Med Genet A 2019 Feb 8. 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

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.

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

Clin Genet 2019 Jan 11. 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

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

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

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

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

Ultrasound Int Open 2018 Oct 25;4(4):E139-E141. Epub 2018 Oct 25.

Centre Hospitalier de Dax Cote d Argent, Department of Pediatrics, Dax, France.

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

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

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

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

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.

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

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

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

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

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

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

Am J Med Genet B Neuropsychiatr Genet 2018 Jun 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Department of Gynecology and Obstetrics.

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

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

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.

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

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

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

Health Soc Work 2017 02;42(1):e32-e43

Department of Social and Behavioral Sciences, Harvard T. H. Chan School of Public Health, Boston, USA.

The Social Security Administration (SSA) Compassionate Allowances List (CAL) was created in 2008, generating a mechanism within SSA for identifying diseases and other medical conditions that by definition meet social security's standards for disability benefits. Currently, over 200 conditions are included in this expedited review program, though few of them are neurodevelopmental in nature. Exploration of a novel method for inclusion of additional conditions on CAL was undertaken using one condition as an exemplar. Read More

Nihon Rinsho 2017 Mar;75(3):498-503

Rubinstein-Taybi syndrome (RTS) is characterized by moderate to severe intellectual disability, distinctive facial features, and broad thumbs and great toes. RTS is caused by haploinsufficiency of CREBBP or EP300 gene. Read More

J Autism Dev Disord 2017 Dec;47(12):3728-3740

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. Read More

Turk J Pediatr 2017 ;59(5):601-603

Department of Genetics, Bezmialem Vakıf University, School of Medicine, Istanbul, Turkey.

Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. Read More

Clin Dysmorphol 2017 Jul;26(3):170-174

aDepartment of Pediatrics bJagiellonian University Medical College, Kraków cDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland dJeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium.

BMC Med Genet 2016 Dec 13;17(1):97. Epub 2016 Dec 13.

Molecular Diagnostics Laboratory, Fundación Rioja Salud, Logroño, La Rioja, Spain.

Background: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. Read More