A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.

ABSTRACT:

Objective

To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic muscular dystrophy.

Methods

Clinical information of the female proband, her monozygotic twin sister, and other family members were collected. Potential pathogenic variants were detected with Multiplex Ligation-dependent Probe Amplification (MLPA) and whole-exome sequencing (WES). Methylation-sensitive restriction enzyme (HhaI) was employed for X-chromosome inactivation analysis.

Results

The proband was a female over 5 years old, displayed clinical manifestations such as elevated creatine kinase (CK) levels and mild calf muscle hypertrophy. Her monozygo

SUBMITTER: Sun MX 

PROVIDER: S-EPMC10832127 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature