Article
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
European journal of human genetics : EJHG - 1 Apr 2021
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
Abstract excerpt
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 adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.