A likely HOXC4 predisposition variant for Chiari malformations.

ABSTRACT:

Objective

Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to identify rare candidate variants that likely predispose individuals to CM and protein structure prediction tools to identify pathogenicity mechanisms.

Methods

By using the Utah Population Database, the authors identified pedigrees with significantly increased numbers of members with CM diagnosis. From a separate DNA biorepository of 451 samples from CM patients and families, 32 CM patients belonging to 1 or more of 24 high-risk Chiari pedigrees were identified. Two high-risk pedigrees had 3 CM-affected relatives, and 22 pedigrees had 2 CM-affec

SUBMITTER: Brockmeyer DL 

PROVIDER: S-EPMC10193467 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature