Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.

ABSTRACT:

Background

Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present study, we explored how bioinformatics analysis on whole-exome sequencing (WES) data can be used to diagnose patients with CMT disease efficiently.

Case presentation

The proband is a 29-year-old female presented with a severe amyotrophy and distal skeletal deformity that plagued her family for over 20 years since she was 5-year-old. No other aberrant symptoms were detected in her speaking, hearing, vision, and intelligence. Similar symptoms manifested in her younger brother, while her parents and her older brother showed normal. To uncover the genetic causes of

SUBMITTER: Jiang H 

PROVIDER: S-EPMC7923504 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature