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rubinstein taybi

Hayley Crawford, Jane Waite, Chris Oliver
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...
January 31, 2017: Journal of Autism and Developmental Disorders
Mateusz Jagla, Tomasz B Tomasik, Aleksandra Czyz, Mateusz Krol, Jeroen K J van Houdt, Przemko Kwinta, Beata A Nowakowska
No abstract text is available yet for this article.
December 23, 2016: Clinical Dysmorphology
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
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. CASE PRESENTATION: Here we describe a familial RSTS case, associated with a novel EP300 mutation...
December 13, 2016: BMC Medical Genetics
Kwang Ho Lee, Eun Young Park, Sang Woo Jung, Seung Woo Song, Hyun Kyo Lim
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. As she showed no improvement during hormonal therapy or medical treatment, a hysterectomy was performed to control the bleeding...
September 2016: Journal of Lifestyle Medicine
Kosuke Izumi
Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed...
October 2016: Molecular Syndromology
Joanna Moss, Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, Chris Oliver
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...
November 2016: American Journal on Intellectual and Developmental Disabilities
H Delgado Bartra, F M Lapouble Ramírez, J Bonilla Pabón, S T Vega Centeno
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 7.5% of patients suffering from this disorder. It has not been found any cases reported where these diseases are associated and the management of patients with pancreatitis associated with PD is still a challenge. CLINICAL CASE: A patient diagnosed with Rubinstein-Taybi syndrome has recurrent abdominal pain of six months and elevated pancreatic enzymes, he underwent a magnetic resonance imaging where pancreas divisum is suspected...
April 15, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz
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...
August 2016: Intractable & Rare Diseases Research
Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M Armour, Benoit Arveiler, Lex Beets, Lydie Burglen, Tiffany Busa, Marie Collet, Julie Deforges, Bert B A de Vries, Elena Dominguez Garrido, Nathalie Dorison, Juliette Dupont, Christine Francannet, Sixto Garciá-Minaúr, Elisabeth Gabau Vila, Samuel Gebre-Medhin, Blanca Gener Querol, David Geneviève, Marion Gérard, Cristina Giovanna Gervasini, Alice Goldenberg, Dragana Josifova, Katherine Lachlan, Saskia Maas, Bruno Maranda, Jukka S Moilanen, Ann Nordgren, Philippe Parent, Julia Rankin, Willie Reardon, Marlène Rio, Joëlle Roume, Adam Shaw, Robert Smigiel, Amaia Sojo, Benjamin Solomon, Agnieszka Stembalska, Constance Stumpel, Francisco Suarez, Paulien Terhal, Simon Thomas, Renaud Touraine, Alain Verloes, Catherine Vincent-Delorme, Josephine Wincent, Dorien J M Peters, Oliver Bartsch, Lidia Larizza, Didier Lacombe, Raoul C Hennekam
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. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients...
September 20, 2016: American Journal of Medical Genetics. Part A
Joel Philip, N M Patil
No abstract text is available yet for this article.
August 8, 2016: Indian Pediatrics
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
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. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
Mark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Jane A Hurst, Emma Clement, William Reardon, Shelagh Joss, Emma Hobson, Moira Blyth, Maryam Al-Shehhi, Sally A Lynch, Mohnish Suri
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. Clinical and genetic data were obtained from nine patients from the UK and Ireland with pathogenic EP300 mutations, identified either by targeted testing or by exome sequencing...
October 2016: Clinical Dysmorphology
Elizabeth A Sellars, Bonnie R Sullivan, G Bradley Schaefer
Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.
July 2016: Clinical Case Reports
Mahmut Alp Karahan, Hüseyin Sert, Zeliha Ayhan, Bülend Ayhan
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...
June 2016: Turkish Journal of Anaesthesiology and Reanimation
Grainne H Butler, Michael Boyle, Sally Ann Lynch, Stephanie Ryan, Michael McDermott, Michael Capra
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. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest...
August 2016: Journal of Pediatric Hematology/oncology
Leonie A Menke, Martine J van Belzen, Marielle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H Gerkes, Mariëtte J V Hoffer, Denise Horn, Sarina G Kant, Didier Lacombe, Eyby Leon, Saskia M Maas, Daniela Melis, Valentina Muto, Soo-Mi Park, Hilde Peeters, Dorien J M Peters, Rolph Pfundt, Conny M A van Ravenswaaij-Arts, Marco Tartaglia, Raoul C M Hennekam
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. All had apparent developmental delay (being the reason for molecular analysis); five had short stature and seven had microcephaly...
October 2016: American Journal of Medical Genetics. Part A
Johannes G Dauwerse, Martine van Belzen, Arie van Haeringen, Gijs van Santen, Christian van de Lans, Elisa Rahikkala, Livia Garavelli, Martijn Breuning, Raoul Hennekam, Dorien Peters
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. To investigate a putative difference in splicing between the patient without RSTS phenotype and the three patients with the RSTS phenotype, we analysed the effects of these mutations on splicing of the pre-mRNA of CREBBP...
November 2016: European Journal of Human Genetics: EJHG
Nataliya Mar, Joseph A Digiuseppe, Mark E Dailey
No abstract text is available yet for this article.
April 18, 2016: Leukemia & Lymphoma
Nick Zavras, Rosario Mennonna, Spyros Maris, George Vaos
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. To our knowledge, this association has not been previously described in the literature...
January 2016: Case Reports in Dermatology
E Blazquez, D Narváez, A Fernandez-Lopez, L Garcia-Aparicio
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. They also present mental retardation and comorbidity, such as congenital cardiac defects, pulmonary structural anomalies and recurrent respiratory infections, which increase the risk of aspiration pneumonia. Cardiac arrhythmias have been reported after the use of certain drugs such as succinylcholine and atropine, in a higher incidence than in general population...
June 2016: Revista Española de Anestesiología y Reanimación
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