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    682 results match your criteria Rubinstein-Taybi Syndrome

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    Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
    Neurosurgery 2018 Apr 11. Epub 2018 Apr 11.
    Vivian L. Smith Department of Neurosur-gery, 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

    Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
    Am J Med Genet B Neuropsychiatr Genet 2018 Apr 10. 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

    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

    Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.
    Dev Cell 2018 Mar 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

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    BMC Med Genet 2018 Mar 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

    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

    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

    Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
    Am J Med Genet A 2018 Apr 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

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

    Perthes disease: A new finding in Floating-Harbor syndrome.
    Am J Med Genet A 2018 Mar 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

    Benign and malignant tumors in Rubinstein-Taybi syndrome.
    Am J Med Genet A 2018 Mar 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

    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

    [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

    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

    [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

    Epigenetic Etiology of Intellectual Disability.
    J Neurosci 2017 Nov;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

    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

    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

    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

    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

    Rubinstein-Taybi Syndrome and Epigenetic Alterations.
    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

    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

    The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome.
    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

    Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
    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

    First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
    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

    Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome.
    J Lifestyle Med 2016 Sep 30;6(2):76-78. Epub 2016 Sep 30.
    Department of Anesthesiology and Pain Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.
    Rubinstein-Taybi syndrome is characterized by mental retardation, atypical facial features, broad thumbs and toes, and scoliosis. Polycystic ovaries are associated with chronic anovulation and abnormal uterine bleeding. A 15-year old female patient was diagnosed with Rubinstein-Taybi Syndrome, and had prolonged abnormal uterine bleeding for 2 years, accompanied by a polycystic ovary. Read More

    Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome.
    Clin Immunol 2016 Dec 5;173:181-183. Epub 2016 Nov 5.
    Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili, Brescia, Italy.

    A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder.
    Am J Intellect Dev Disabil 2016 11;121(6):465-486
    Joanna Moss, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, and Institute of Cognitive Neuroscience, University College London; Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, and Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham.
    Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted. Read More

    [Distal pancreatectomy as surgical option in Pancreas divisum associated with Rubinstein-Taybi syndrome].
    Cir Pediatr 2015 Apr 15;28(2):84-87. Epub 2015 Apr 15.
    Universidad Peruana de Ciencias Aplicadas. Lima, Perú.
    Introduction: The Rubinstein-Taybi syndrome and pancreas divisum are uncommon diseases in children. The Rubinstein-Taybi syndrome diagnosis is only clinical, and mental retardation and dysmorphic features mainly characterize it. The PD relates to idiopathic pancreatitis in 7. Read More

    Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.
    Intractable Rare Dis Res 2016 Aug;5(3):222-6
    Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey.
    Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, café-au-lait (CAL) spots, obesity and hyperinsulinism. Read More

    Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
    Am J Med Genet A 2016 Dec 20;170(12):3069-3082. Epub 2016 Sep 20.
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
    Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Read More

    Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.
    J Pediatr Genet 2015 Sep 28;4(3):177-86. Epub 2015 Sep 28.
    Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore, Policlinico, Milano, Italy.
    Rubinstein-Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300. Read More

    Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.
    Ital J Pediatr 2016 Aug 27;42(1):75. Epub 2016 Aug 27.
    Pediatrics Honorary Member University Faculty, G D'Annunzio University of Chieti-Pescara, Chieti, Italy.
    This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Read More

    Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
    Clin Dysmorphol 2016 Oct;25(4):135-45
    aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.
    Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because of EP300 mutations. Read More

    Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
    Clin Case Rep 2016 Jul 10;4(7):696-8. Epub 2016 Jun 10.
    Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas.
    Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. Read More

    Anaesthetic Management of Children with Rubinstein-Taybi Syndrome.
    Turk J Anaesthesiol Reanim 2016 Jun 1;44(3):152-4. Epub 2016 Jun 1.
    Department of Anaesthesiology and Reanimation, Harran University School of Medicine, Şanlıurfa, Turkey.
    Rubinstein-Taybi syndrome (RTS) is a rare, autosomal dominant syndrome presenting with mental retardation and physical abnormalities, including broad thumbs, big and broad toes, short stature and craniofacial anomalies. Special attention was paid to the possibilities of difficult airway, aspiration pneumonia and cardiovascular dysfunction during anaesthesia. Micrognathia, retrognathia, broad nasal bridge, abnormally large or 'beak-shaped' nose, hypoplastic maxilla and small mouth-typical dysmorphic facial features are one of the biggest causes of the difficult airway in this syndrome. Read More

    One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.
    J Pediatr Hematol Oncol 2016 08;38(6):e191-2
    *Our Lady's Childrens Hospital, Crumlin †Children's University Hospital, Temple Street, Dublin, Ireland.
    A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Read More

    CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
    Am J Med Genet A 2016 Oct 17;170(10):2681-93. Epub 2016 Jun 17.
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
    Mutations in CREBBP cause Rubinstein-Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did not, or only in a very limited manner, resemble Rubinstein-Taybi syndrome. The combined facial signs typical for Rubinstein-Taybi syndrome were absent, none had broad thumbs, and three had only somewhat broad halluces. Read More

    Syndromes with supernumerary teeth.
    Am J Med Genet A 2016 Oct 2;170(10):2611-6. Epub 2016 Jun 2.
    Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. Read More

    Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
    Eur J Hum Genet 2016 11 11;24(11):1639-1643. Epub 2016 May 11.
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
    Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of CREBBP. Mutations at different positions within the same intron20 splice donor site were observed in three patients clinically suspected as having Rubinstein-Taybi syndrome (RSTS). All mutations were de novo and likely disease-causing. Read More

    Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent.
    Case Rep Dermatol 2016 Jan-Apr;8(1):59-63. Epub 2016 Mar 5.
    Department of Paediatric Surgery, Attikon University General Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
    Rubinstein-Taybi syndrome is a rare congenital neurodevelopmental disorder characterized by dysmorphic features, skeletal abnormalities, growth deficiency, and mental retardation. Circumscribed storiform collagenoma is a distinct benign fibromatous tumor that presents either as solitary tumor or in association with other syndromes. In this report, we describe a 16-year-old male with Rubinstein-Taybi syndrome associated with circumscribed storiform collagenoma. Read More

    Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome.
    Rev Esp Anestesiol Reanim 2016 Jun-Jul;63(6):361-4. Epub 2016 Apr 6.
    Hospital Sant Joan de Déu, University of Barcelona, Spain.
    Rubinstein-Taybi syndrome (RTS) is a chromosomopathy associated to molecular mutations or microdeletions of chromosome 16. It has an incidence of 1:125,000-700,000 live births. RTS patients present craniofacial and thoracic anomalies that lead to a probable difficult-to-manage airway and ventilation. Read More

    Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study.
    Mol Autism 2016 5;7:24. Epub 2016 Apr 5.
    School of Psychology, University of Birmingham, Birmingham, UK ; Center for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA USA.
    Background: Recent research has identified differences in relative attention to competing social versus non-social video stimuli in individuals with autism spectrum disorder (ASD). Whether attentional allocation is influenced by the potential threat of stimuli has yet to be investigated. This is manipulated in the current study by the extent to which the stimuli are moving towards or moving past the viewer. Read More

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