Identification of DNAH17 Variants in Han-Chinese Patients With Left-Right Asymmetry Disorders.

ABSTRACT: The formation of left-right asymmetry of the visceral organs is a conserved feature of the human body, and the asymmetry specification of structure and function is precisely orchestrated by multiple regulatory mechanisms. The abnormal results of organ positioning situs arise from defective cilia structure or function during embryogenesis in humans. In this study, we recruited two unrelated Han-Chinese families with left-right asymmetry disorders. The combination of whole-exome sequencing and Sanger sequencing identified two compound heterozygous variants: c.4109C>T and c.9776C>T, and c.612C>G and c.8764C>T in the dynein axonemal heavy chain 17 gene (DNAH17) in two probands with left-right asymmetry disorders. We report for the first time a possible association between DNAH17

SUBMITTER: Yu X 

PROVIDER: S-EPMC9186109 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature