Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

ABSTRACT:

Objectives

Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on this condition are available. We report a man with a complex ataxia syndrome, hearing loss, and kidney failure associated with a new biallelic variant in XPNPEP3.

Methods

Clinical evaluation, neuroimaging studies, a kidney biopsy, and whole genome sequencing (WGS) were applied. Since the phenotype was compatible with a mitochondrial disease, a muscle biopsy with morphological and mitochondrial biochemical investigations was performed.

Results

Axial ataxia, cerebellar atrophy, hearing loss, myopathy, ptosis, supra

SUBMITTER: Ben-Shabat I 

PROVIDER: S-EPMC10684053 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature