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Article

A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.

Journal of human genetics - 1 Nov 2024

Yoneno Shota, Yamamoto Kaoru, Tabata Kenshiro, Shimizu-Motohashi Yuko, Tomita Ayaka, Hayashi Taiju, Maki Hiroyuki, Sato Noriko, Inoue Ken, Saitsu Hirotomo, Komaki Hirofumi

Abstract excerpt

Heterozygous transmembrane protein 63A (TMEM63A) variants cause transient infantile hypomyelinating leukodystrophy-19, which features remarkable natural resolution of clinical and imaging findings during childhood. Previous reports have mainly described de novo variants lacking detailed familial cases. Herein, we describe the clinical course of familial cases with a TMEM63A variant. A 5-month-old girl presented...

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PMID: 38951194
DOI: 10.1038/s10038-024-01268-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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