Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

ABSTRACT:

Purpose

We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism.

Methods

Clinical and genomic investigations were undertaken alongside molecular studies, including immunoblotting and immunofluorescence analyses of variant/wild-type human HYAL2 expressed in mouse fibroblasts, and in silico modeling of putative pathogenic variants.

Results

Ten newly identified individuals with this condition were investigated, and they were associated with 9 novel pathogenic variants. Clinical studies defined genotype-pheno

SUBMITTER: Fasham J 

PROVIDER: S-EPMC9933146 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature