Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

ABSTRACT:

Background

A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population remains underrepresented. Here, we reported previously unreported functional ABHD12 variants in two Chinese families and explored the correlation between genetic polymorphisms and phenotypes linked to PHARC syndrome.

Methods

Participants with biallelic pathogenic ABHD12 variants were recruited from the Chinese Deafness Genetics Cohort. These participants underwent whole-genome sequencing. Subsequently, a comprehensive literature review was conducted.

Results

Two Han Chinese families were identified, one with a compound heterozygous

SUBMITTER: Long X 

PROVIDER: S-EPMC11312174 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature