P378: A de novo (p.Phe244Leu) variant in LRRC8A suggests VRAC gating dysfunction in a child with a neurovascular skeletal phenotype

Genetics in Medicine Open 2026 Open access

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Authors: Rodrigo Mendez, Devon E. Bonner, Laurens Wiel, Shruti Marwaha, Jonathan Adam Bernstein, Matthew Thomas Wheeler
DOI: 10.1016/j.gimo.2026.103872
Cited by: 0

Abstract

Management has been supportive. Nutritional supplementation and developmental therapies were provided, along with ophthalmologic care for entropion and orthopedic monitoring of limb anomalies. No VRAC-targeted therapy is available.

Fields of Study & Subjects

Genomics and Rare Diseases Ion channel regulation and function Ion Transport and Channel Regulation

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103872–103872
Publication date
1 January 2026
Language
EN