Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI).

ABSTRACT:

Background and importance

Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in infancy.

Objectives

This study aims to describe the clinical audiologic and otologic features and potential etiology of hearing impairment in GACI and gain pathophysiological insight from a murine model of GACI.

Design

Cross-sectional cohort study of individuals with GACI. Murine ossicle micromorphology of the ENPP1^asj/asj mutant compared to wild-type.

Setting

Clinical research hospital; basic science laboratory.

Participants

Nineteen individuals with GACI who met clinical, biochemical, and genetic criteria for d

SUBMITTER: Theng EH 

PROVIDER: S-EPMC9295326 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature