P392: Perrault syndrome in two siblings due To rare LARS2 variant not previously reported in homozygous state

Genetics in Medicine Open 2026 Open access

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Authors: Michelle Nguyen, Jonathan Chiao, Amanda Chiao, Maria Ethel Aguirre Flores
DOI: 10.1016/j.gimo.2026.103886
Cited by: 0

Abstract

The two siblings are followed by pediatric otolaryngology and audiology and currently receive aural rehabilitation via amplification and cochlear implantation. Genetic testing established the diagnosis of Perrault Syndrome, and the female patient was referred to gynecology for evaluation of primary ovarian insufficiency.

Fields of Study & Subjects

Hearing Cochlea Tinnitus Genetics Genomics and Rare Diseases Congenital Ear and Nasal Anomalies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103886–103886
Publication date
1 January 2026
Language
EN