Case Report and Commentary on PALM3 Variants in Autosomal Recessive Hearing Loss Families

This document functions as a case report and commentary focusing on hereditary hearing loss, specifically autosomal recessive non-syndromic hearing loss. The authors examine a consanguineous family with autosomal recessive, non-syndromic hearing loss to evaluate genetic variants in PALM3 and OTOA. The setting and sample size were not reported in the text.

Key findings indicate aberrant splicing with exon skipping in the PALM3 variant, resulting in either a frameshift or a large in-frame deletion. Functional data suggest a loss of function direction. Comparative analysis utilizes published Palm3 knockout mice, which demonstrated auditory dysfunction. Conversely, the organ of Corti architecture remained preserved overall architecture in 12-month-old heterozygous Palm3 mice.

The authors acknowledge that a dual molecular diagnosis cannot be excluded. Despite this limitation, combined genetic, functional, and comparative data support PALM3 as a strong candidate gene. The practice relevance notes PALM3 as a strong candidate gene for autosomal recessive hearing loss. Clinicians should interpret these findings within the context of the reported limitations and the specific population studied. Safety data regarding adverse events were not reported.

Follow-up duration was not reported. The certainty of the evidence is not reported. Clinicians should recognize the strength of the candidate gene status while remaining aware of the diagnostic uncertainty and limitations.