Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

ABSTRACT:

Introduction

Homozygous and compound heterozygous variants in GJC2, the gene encoding connexin-47 protein, cause Pelizaeus-Merzbacher-like disease type 1 or hypomyelinating leukodystrophy 2 (HLD2), a severe infantile-onset hypomyelinating leukodystrophy, and rarely some milder phenotypes like hereditary spastic paraplegia (HSP) type 44 (SPG44) and subclinical leukodystrophy. Herein, we report an Iranian GJC2-related family with intrafamilial phenotypic heterogeneity and review the literatures.

Methods

Whole-exome sequencing was performed for an Iranian proband, who was initially diagnosed as HSP case. Data were analyzed and the candidate variant was confirmed by PCR and Sanger sequencing subsequently checked in family members to co-segregation analysis. A caref

SUBMITTER: Ghasemi A 

PROVIDER: S-EPMC10617252 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature