Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.
Fateme Zahedi Abghari, Emran Esmaeilzadeh, Marzieh Mohseni et al.
✦ AI-curated · Sources linked
Case in brief
An Iranian man presented with bilateral sensorineural hearing loss (SNHL) and no other clinical manifestations at evaluation. Whole-exome sequencing and copy-number analysis identified a homozygous PEX26 variant, c.266G > T (p.Gly89Val), which segregated with disease in the family. In silico analyses supported a potentially deleterious effect. The report describes this as a clinically isolated hearing-loss phenotype associated with PEX26; no treatment or subsequent clinical outcome is reported.
What made this case unusual
The patient had bilateral SNHL without overt extra-auditory manifestations, an isolated auditory presentation within the reported clinical spectrum of PEX26-associated peroxisomal disorders.
Diagnostic / clinical pearl
In bilateral SNHL without other apparent manifestations, genetic evaluation may identify a PEX26-associated phenotype; family segregation can support the relevance of a detected variant.