Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica N Hartley, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Carroll Jennifer, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard
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 syndrome (DDCH). Female carriers are mostly asymptomatic but may present with deafness. BCAP31 is flanked by the SLC6A8 and ABCD1 genes...
September 2021: European Journal of Human Genetics: EJHG