Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase (HSD3B7) deficiency in China.

ABSTRACT:

Background

Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the correlation between the genotype and phenotype of HSD3B7 deficiency and to report on responses to primary bile acid therapy.

Methods

The medical records of a cohort of 39 unrelated patients with genetically and biochemically confirmed HSD3B7 deficiency were examined to determine whether there exist genotype-phenotype relationships in this bile acid synthesis disorder.

Results

In all, 34 of the 44 variants identified in HSD3B7 were novel. A total of 32 patients presented early with neonatal cholestasis, and 7 presented after 1-yea

SUBMITTER: Zhao J 

PROVIDER: S-EPMC8501698 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature