Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

ABSTRACT:

Backgrounds

Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is still a relatively high proportion of cases with primary iron overload from unexplained causes. We aimed to explore novel non-HFE mutations in Chinese patients with primary iron overload.

Methods

Whole exome sequence was conducted to screen mutations in novel HH-related genes in the 9 cases with unexplained primary iron overload. Then the representative candidate genes were screened for mutations in another cohort of 18 HH cases. The biological function of the selected genes and variants were analyzed in vitro.

Results

Whole exome sequencing of 9 case

SUBMITTER: Zhang W 

PROVIDER: S-EPMC9169345 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature