Article
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
European journal of human genetics : EJHG - 1 Sept 2021
Whalen Sandra, Shaw Marie, Mignot Cyril, Héron Delphine, Bastaraud Sandra Chantot, Walti Cecile Cieuta, Liebelt Jan, Elmslie Frances, Yap Patrick, Hurst Jane, Forsythe Elisabeth, Kirmse Brian, Ozmore Jillian, Spinelli Alessandro Mauro, Calabrese Olga, de Villemeur Thierry Billette, Tabet Anne Claude, Levy Jonathan, Guet Agnes, Kossorotoff Manoëlle, Kamien Benjamin, Morton Jenny, McCabe Anne, Brischoux-Boucher Elise, Raas-Rothschild Annick, Pini Antonella, Carroll Renée, Hartley Jessica N, Frosk Patrick, Slavotinek Anne, Truxal Kristen, Jennifer Carroll, Dheedene Annelies, Cui Hong, Kumar Vishal, Thomson Glen, Riccardi Florence, Gecz Jozef, Villard Laurent
Abstract excerpt
The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF) and one missense). Patients had severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination...
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