A Novel Mutation G96R Identified in a Patient with Hypomyelinating Leukodystrophy Onset Beyond Adolescence

Overview

Journal Hum Genome Var

Date 2017 Aug 10

PMID 28791129

Citations 10

Authors

Yongping Lu

Yumiko Ondo

Keiko Shimojima

Hitoshi Osaka

Toshiyuki Yamamoto

Affiliations

Soon will be listed here.

Abstract

The tubulin beta-4A gene () is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological symptoms beyond adolescence. This patient shows intermediate clinical features between DYT4 and H-ABC, suggesting that the disorder would constitute a spectrum disorder.

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