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rubinstein taybi

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 Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients...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...
May 11, 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
Hayley Crawford, Joanna Moss, Chris Oliver, Natasha Elliott, Giles M Anderson, Joseph P McCleery
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. Furthermore, little is known about whether such differences exist across other neurodevelopmental disorders...
2016: Molecular Autism
Jane Waite, Sarah R Beck, Mary Heald, Laurie Powis, Chris Oliver
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. A cross-sectional trajectory analysis was conducted. There were significant WM span deficits in RTS relative to mental age...
June 2016: Journal of Autism and Developmental Disorders
Tamar I de Vries, Glen R Monroe, Martine J van Belzen, Christian A van der Lans, Sanne Mc Savelberg, William G Newman, Gijs van Haaften, Rutger A Nievelstein, Mieke M van Haelst
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. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses...
August 2016: European Journal of Human Genetics: EJHG
Cha Gon Lee, Eunhae Cho, Young Min Ahn
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. Descriptions so far have been de novo. Here, we report a very rare case of a maternally inherited a -1 Mb sized duplication on 16p13.3 identified by SNP array testing. The patient showed moderate intellectual disability, normal growth, and characteristic facial features...
April 2016: European Journal of Medical Genetics
Antonella Giacobbe, Paola Francesca Ajmone, Donatella Milani, Sabrina Avignone, Fabio Triulzi, Cristina Gervasini, Francesca Menni, Federico Monti, Daniela Biffi, Katia Canavesi, Maria Antonella Costantino
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. The aim of this study is to describe the electroclinical phenotype of twenty-three patients with RSTS, and to try to correlate electroclinical features with neuroradiological, cognitive and genetic features...
June 2016: Brain & Development
Josephine Wincent, Aron Luthman, Martine van Belzen, Christian van der Lans, Johanna Albert, Ann Nordgren, Britt-Marie Anderlid
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. Eleven patients (64...
January 2016: Molecular Genetics & Genomic Medicine
Fei Zheng, Lawryn H Kasper, David C Bedford, Stephanie Lerach, Brett J W Teubner, Paul K Brindle
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. Mutations in the histone acetyltransferase CREB binding protein (CBP, CREBBP) cause Rubinstein-Taybi Syndrome (RTS), a developmental disorder that includes ASD-like symptoms...
2016: PloS One
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