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Background <p>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.</p> Case presentation <p>This case report presents two siblings diagnosed with autosomal recessive high myopia and sensorineural hearing loss due to a homozygous mutation in the <i>SLITRK6</i> gene.</p> Conclusion <p>Our findings reinforce the essential role of the <i>SLITRK6</i> gene in auditory and visual system development and highlight the importance of genetic evaluation in pediatric patients presenting with multi-sensory deficits.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月6日

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  • Swapna Sebastian,
  • Paul Jasper,
  • Manju Deena Mammen,
  • Ann Mary Augustine

摘要

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.