A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

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A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:108-112

Authors: Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X

Abstract
OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss.
METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents.
RESULTS: We identified a novel heterozygous variant of CDH23:c.4567A > G (p.Asn1523Asp) in exon 37 (NM_022124), in conjunction with a reported mutation of CDH23:c.5101G > A (p.Glu1701Lys) in exon 40, to be a potentially pathogenic compound heterozygosity in the proband. The unaffected father has a heterozygous variant of CDH23:c.4567A > G, and the normal mother has another heterozygous variant, CDH23:c.5101G > A. The novel variant was absent in the 1000 Genomes Project. The clinical reassessments revealed binaural profound sensorineural hearing loss (DFNB12) without retinitis pigmentosa in the proband.
CONCLUSIONS: This study demonstrates that the novel variant c.4567A > G (p.Asn1523Asp) in compound heterozygosity with c.5101G > A (p. Glu1701Lys) in the CDH23 gene is the main cause of DFNB12 in the proband. Simultaneously, this study provides a foundation to further elucidate the CDH23-related mechanisms of DFNB12.

PMID: 29287849 [PubMed - in process]

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