Article
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Brunet Theresa, McWalter Kirsty, Mayerhanser Katharina, Anbouba Grace M, Armstrong-Javors Amy, Bader Ingrid, Baugh Evan, Begtrup Amber, Bupp Caleb P, Callewaert Bert L, Cereda Anna, Cousin Margot A, Del Rey Jimenez Juan C, Demmer Laurie, Dsouza Nikita R, Fleischer Nicole, Gavrilova Ralitza H, Ghate Sumedha, Graf Elisabeth, Green Andrew, Green Sarah R, Iascone Maria, Kdissa Ameni, Klee Dirk, Klee Eric W, Lancaster Emily, Lindstrom Kristin, Mayr Johannes A, McEntagart Meriel, Meeks Naomi J L, Mittag Dana, Moore Harrison, Olsen Anne K, Ortiz Damara, Parsons Gretchen, Pena Loren D M, Person Richard E, Punj Sumit, Ramos-Rivera Gonzalo Alonso, Sacoto Maria J Guillen, Bradley Schaefer G, Schnur Rhonda E, Scott Tiana M, Scott Daryl A, Serbinski Carolyn R, Shashi Vandana, Siu Victoria M, Stadheim Barbro Fossøy, Sullivan Jennifer A, Švantnerová Jana, Velsher Lea, Wargowski David S, Wentzensen Ingrid M, Wieczorek Dagmar, Winkelmann Juliane, Yap Patrick, Zech Michael, Zimmermann Michael T, Meitinger Thomas, Distelmaier Felix, Wagner Matias
Abstract excerpt
PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers. RESULTS: We identified multiple variant types in MSL3 (ten nonsense,...
Topics
- Autism Spectrum Disorder
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins