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    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 Feb;42(1):e32-e43
    Shanna L. Burke, PhD, MSW, LCSW, is assistant professor, School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 SW 8th Street, ACH5 564, Miami, FL 33199; e-mail: Peter Maramaldi, PhD, MPH, LCSW, is professor, Hartford faculty scholar and national mentor, and director of PhD program, Simmons School of Social Work, Simmons College; clinical instructor in oral health policy and epidemiology, Oral Health Policy and Epidemiology, Harvard School of Dental Medicine; and adjunct professor, Department of Social and Behavioral Sciences, Harvard T. H. Chan School of Public Health, Boston.
    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 Jan 31. Epub 2017 Jan 31.
    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 Aug;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 Nov 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

    Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome.
    J Autism Dev Disord 2016 06;46(6):2064-71
    School of Psychology, Cerebra Centre for Neurodevelopmental Disorders, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
    Working memory (WM) impairments might amplify behavioural difference in genetic syndromes. Murine models of Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in RTS. Individuals with RTS and typically developing children completed WM tasks, with participants with RTS completing an IQ assessment and parents/carers completing the Vineland Adaptive Behavior Scales. Read More

    Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
    Eur J Hum Genet 2016 08 9;24(9):1363-6. Epub 2016 Mar 9.
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
    Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Read More

    Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
    Eur J Med Genet 2016 Apr 9;59(4):210-4. Epub 2016 Feb 9.
    Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Republic of Korea.
    A 16p13.3 duplication syndrome has been recently suggested to be a novel recognizable syndrome as a reciprocal microduplication disease of Rubinstein-Taybi syndrome. The CREBBP gene is believed to be the dosage-sensitive critical gene responsible for the reciprocal duplication and deletion syndrome. Read More

    Electroclinical phenotype in Rubinstein-Taybi syndrome.
    Brain Dev 2016 Jun 8;38(6):563-70. Epub 2016 Feb 8.
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    Objective: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurological features are scant and dated. Read More

    CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
    Mol Genet Genomic Med 2016 Jan 22;4(1):39-45. Epub 2015 Sep 22.
    Department of Molecular Medicine and SurgeryCenter for Molecular MedicineCMM L8:02Karolinska InstitutetKarolinska University HospitalStockholmSweden; Department of Clinical GeneticsKarolinska University HospitalStockholmSweden.
    Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS in a minority of patients. In this study, 17 patients with a clinical diagnosis of RTS were investigated with direct sequencing, MLPA, and array-CGH in search for mutations in these two genes. Read More

    Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.
    PLoS One 2016 5;11(1):e0146366. Epub 2016 Jan 5.
    Department of Biochemistry, St Jude Children's Research Hospital, Memphis, TN 38105, United States of America.
    Autism spectrum disorders (ASDs) are a group of neurodevelopmental afflictions characterized by repetitive behaviors, deficits in social interaction, and impaired communication skills. For most ASD patients, the underlying causes are unknown. Genetic mutations have been identified in about 25 percent of ASD cases, including mutations in epigenetic regulators, suggesting that dysregulated chromatin or DNA function is a critical component of ASD. Read More

    Rubinstein-Taybi Syndrome in a 19-years old boy.
    Neuro Endocrinol Lett 2015 ;36(5):417-20
    Introduction: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland.

    Objective: Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed.

    Case: Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows. Read More

    Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
    Hum Pathol 2016 Jan 25;47(1):144-9. Epub 2015 Sep 25.
    Molecular Medicine Centre, Medical University of Sofia, 1431 Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, 1431 Sofia, Bulgaria.
    Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder (prevalence, 1:125000-720000) characterized by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa, and short stature. The purpose of this study was to use targeted exome sequencing to identify the genetic cause of RSTS in a 6.5-year-old girl presenting typical features of this condition. Read More

    Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.
    Sci Rep 2015 Nov 6;5:16256. Epub 2015 Nov 6.
    Center for Biomaterials and Tissue Engineering, Universitat Politècnica de València, Valencia, Spain.
    The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Read More

    Contribution of Electronic Medical Records to the Management of Rare Diseases.
    Biomed Res Int 2015 11;2015:954283. Epub 2015 Oct 11.
    Cytogenetics and Reproduction Biology, Amiens University Medical Center, University of Picardie Jules Verne, 80054 Amiens, France ; EA Hervy, 80000 Amiens, France.
    Purpose: Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR. Read More

    From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
    Hum Mutat 2016 Feb 4;37(2):175-83. Epub 2015 Nov 4.
    Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italia.
    Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and intellectual disability. Causative mutations in CREBBP and EP300 genes have been identified in ∼55% and ∼8% of affected individuals. To date, only 28 EP300 alterations in 29 RSTS clinically described patients have been reported. Read More

    Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.
    Pediatr Blood Cancer 2016 Mar 20;63(3):572-3. Epub 2015 Oct 20.
    Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

    Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines.
    Hum Vaccin Immunother 2016 Mar;12(3):801-5
    a Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation , Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico , Milan , Italy.
    Despite the fact that the achievement of appropriate immunization coverage for routine vaccines is a priority for health authorities worldwide, vaccination delays or missed opportunities for immunization are common in children with chronic diseases. The main aim of this cross-sectional study was to evaluate immunization coverage and the timeliness of vaccination in children suffering from 3 different rare genetic diseases: Rubinstein-Taybi syndrome (RSTS), Sotos syndrome (SS), and Beckwith-Wiedemann syndrome (BWS). A total of 57 children with genetic diseases (15 with RSTS, 14 children with SS, and 28 with BWS) and 57 healthy controls with similar characteristics were enrolled. Read More

    Antibody deficiency in Rubinstein-Taybi syndrome.
    Clin Genet 2016 Mar 28;89(3):355-8. Epub 2015 Sep 28.
    Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.
    The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody production have previously been described in the context of RTS. Read More

    Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.
    Mol Syndromol 2015 Jul 3;6(2):99-103. Epub 2015 Mar 3.
    Institute for Molecular and Cellular Biosciences, Research Center for Epigenetic Disease, The University of Tokyo, Tokyo, Japan ; Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.
    Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Read More

    Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
    Ann Clin Lab Sci 2015 ;45(4):458-61
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature. Mutations in the cAMP-response element binding protein-BP (CREBBP) gene (50-60% of cases) and E1A-binding protein (EP300, 3%) are known genetic causes in affected individuals. Here, we describe a genetically confirmed Korean RTS patient with atypical features, including Hirschsprung disease and growth hormone deficiency. Read More

    Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome.
    J Neurodev Disord 2015 30;7(1):22. Epub 2015 Jul 30.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, B15 2TT UK.
    Background: Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetically defined neurodevelopmental disorders with unique profiles of social behaviour.

    Methods: Here, we examine eye gaze to the eye and mouth regions of neutrally expressive faces, as well as the spontaneous visual preference for happy and disgusted facial expressions compared to neutral faces, in individuals with CdLS versus RTS. Read More

    Meta-Analysis of Placental Transcriptome Data Identifies a Novel Molecular Pathway Related to Preeclampsia.
    PLoS One 2015 14;10(7):e0132468. Epub 2015 Jul 14.
    Reproductive Biology Laboratory, Academic Medical Center, Amsterdam, the Netherlands.
    Studies using the placental transcriptome to identify key molecules relevant for preeclampsia are hampered by a relatively small sample size. In addition, they use a variety of bioinformatics and statistical methods, making comparison of findings challenging. To generate a more robust preeclampsia gene expression signature, we performed a meta-analysis on the original data of 11 placenta RNA microarray experiments, representing 139 normotensive and 116 preeclamptic pregnancies. Read More

    Rubinstein-Taybi syndrome with agenesis of corpus callosum.
    J Pediatr Neurosci 2015 Apr-Jun;10(2):175-7
    Department of Paediatrics, MKCG Medical College, Berhampur, Odisha, India.
    Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Read More

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