Article
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025
De Winter Jonathan, Van de Vondel Liedewei, Ermanoska Biljana, Monticelli Alice, Isapof Arnaud, Cohen Enzo, Stojkovic Tanya, Hackman Peter, Johari Mridul, Palmio Johanna, Waldrop Megan A, Meyer Alayne P, Nicolau Stefan, Flanigan Kevin M, Töpf Ana, Diaz-Manera Jordi, Straub Volker, Longman Cheryl, McWilliam Catherine A, Orbach Rotem, Verma Sumit, Laine Regina, Donkervoort Sandra, Bonnemann Carsten G, Rebelo Adriana, Züchner Stephan, Grider Tiffany, Shy Michael E, Maystadt Isabelle, Demurger Florence, Cairns Anita, Beecroft Sarah, Folland Chiara, De Ridder Willem, Ravenscroft Gina, Bonne Gisèle, Udd Bjarne, Baets Jonathan
Abstract excerpt
PURPOSE: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate the role of SPTAN1 in genetically unsolved hereditary myopathies. METHODS: Through international collaboration we identified 14 families with distal weakness and heterozygous SPTAN1...
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- Humans
- Male