DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.

ABSTRACT:

Introduction

Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited.

Methods

The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed.

Results

Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A >

SUBMITTER: Gao C 

PROVIDER: S-EPMC10692899 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature