Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

ABSTRACT:

Background

Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.

Method

We recruited seven TCS families. Variant screening in probands was performed by targeted next-generation sequencing (NGS). The variants identified were confirmed by Sanger sequencing. The pathogenicity of all the mutations was evaluated using the guidelines of the American College of Medical Genetics and Genomics (ACMG) and InterVar software.

Results

Three frameshift variants, two nonsense variants, one missense variant, and one splicing variant of TCOF1 were identified in the seve

SUBMITTER: Zhang C 

PROVIDER: S-EPMC7843273 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature