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

Abstract

Sensory deafness is a disorder with a broad spectrum of phenotypes. It is associated with genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnosis. Mutations in the gene encoding Protocadherin 15 (PCDH15) are known to cause non-syndromic deafness (DFNB23) or either dual sensory impairments of deafness and blindness (Usher Syndrome type 1F; USH1F). PCDH15 gene also contributes to neuronal development and function, therefore the PCDH15 gene is a promising candidate risk gene for neuropsychiatric symptoms. PCDH15 gene mutations have been described in patients with schizophrenia, autism, and severe intellectual disability. We reported a case of sensory deafness in a 10-years-old girl with presented with walking and developmental delay, and bilateral sensorineural deafness. NGS syndromic and non-syndromic deafness gene panel showed a variant c.5414C>T in the PCDH15 gene, which appears to be pathogenic.

Keywords

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