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Article

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

American journal of medical genetics. Part A - 1 Jun 2026

Théberge Emilie T, Sun Bo, Wang Ruiwu, Mohajeri Arezoo, Van Karnebeek Clara D M, Boerkoel Cornelius F, Huynh Stephanie, Horvath Gabriella, Chen S R Wayne, Lehman Anna

Abstract excerpt

The 1,4,5-trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss-of-function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain-of-function mutation in the highly conserved suppressor domain of ITPR1 has been previously reported. We report a novel de novo ITPR1 variant (p.(Tyr131His)) detected...

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Identifiers

PMID: 41649386
DOI: 10.1002/ajmga.70069

Genes

ITPR1

Variants

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.Semantic proximity Read ↗

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