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Audiological phenotype of siblings with dual sensory impairment caused by SLITRK6 mutation—case report

Year: 2026

Type: article

Abstract: Background Dual sensory impairment (DSI), defined as concomitant hearing and vision loss, is a rare but clinically significant condition. While genetic factors account for the majority of congenital sensory impairments, dual impairment syndromes are less frequently documented. Case presentation This case report presents two siblings diagnosed with autosomal recessive high myopia and sensorineural hearing loss due to a homozygous mutation in the SLITRK6 gene. Conclusion Our findings reinforce the essential role of the SLITRK6 gene in auditory and visual system development and highlight the importance of genetic evaluation in pediatric patients presenting with multi-sensory deficits.

Source: The Egyptian Journal of Otolaryngology

DOI: 10.1186/s43163-026-01020-8

Authors: Swapna Sebastian, Paul Jasper, Manju Deena Mammen, Ann Mary Augustine

Institution: Christian Medical College, Vellore

Language: English

Topic: Hearing, Cochlea, Tinnitus, Genetics

Subfield: Sensory Systems

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7127975347