Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adve...

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Veröffentlicht in:	European journal of human genetics : EJHG 2021-04, Vol.29 (4), p.625-636
Hauptverfasser:	Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Attention deficit hyperactivity disorder Autism Child Child, Preschool Cognitive ability Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Developmental Disabilities - genetics Developmental Disabilities - pathology Exons Female Genetics Genetics & genetic processes Génétique & processus génétiques Haploinsufficiency Human genetics Humans Infant Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - pathology Life Sciences Male Mutation Neurodevelopmental disorders Neurological complications Neurons and Cognition Phenotype Phenotypes Sciences du vivant Seizures Sin3 Histone Deacetylase and Corepressor Complex - genetics Syndrome
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