Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study

Raidah Albaradie,Mohammad Uzair,Shahid Bashir

Brain Disorders（2023）

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摘要

•Mutations in the PCDH15 gene cause deafness.•PCDH15 gene have been described in patients with severe intellectual disability; this gene has also been cited as a risk gene for neuropsychiatric disorders.•We describe a case of sensory deafness, caused by a mutation in the PCDH15 gene who presented with ataxia and developmental delay to increase awareness of this condition.

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关键词

PCDH15,Clinical manifestations,Gene variations,Development delay,Usher syndrome

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