Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.

ABSTRACT:

Background

Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can facilitate diagnosis of Townes-Brocks syndrome.

Methods

We collected clinical data and blood samples of the two patients and their family members for whole-exome sequencing and Sanger sequencing. Prediction analysis of the SALL1variation protein structure was achieved using Alphafold. The clinical materials and gene sequencing results were analyzed. The clinical materials and gene sequencing results were analyzed. The related literature of Townes-Brocks syndrome were searched and the

SUBMITTER: Wang Z 

PROVIDER: S-EPMC10466882 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature