Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient.

ABSTRACT:

Objective

To confirm diagnosis and explore the genetic aetiology in a Chinese patient suspected to have Cockayne syndrome (CS).

Methods

The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencing. The foetus of the patient's mother underwent prenatal diagnostic Sanger sequencing using amniotic fluid obtained at 19 weeks' gestation.

Results

Clinical examination of the patient showed developmental delay, progressive neurologic dysfunction and premature aging. Two compound, heterozygous ERCC excision repair 6, chromatin remodelling factor (ERCC6) gene mutations were detected in the proband by WES and confirmed by Sanger sequencing, comprising a known paternal no

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC7607196 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature