Article
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Annals of clinical and translational neurology - 1 Oct 2020
Rönkkö Julius, Molchanova Svetlana, Revah-Politi Anya, Pereira Elaine M, Auranen Mari, Toppila Jussi, Kvist Jouni, Ludwig Anastasia, Neumann Julika, Bultynck Geert, Humblet-Baron Stéphanie, Liston Adrian, Paetau Anders, Rivera Claudio, Harms Matthew B, Tyynismaa Henna, Ylikallio Emil
Abstract excerpt
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a Charcot-Marie-Tooth disease gene. METHODS: Whole-exome sequencing of four affected individuals in an autosomal dominant family and one individual who was the only affected...
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