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Hum Genome Var. 2019 Jan 28;6:8. doi: 10.1038/s41439-019-0037-y. eCollection 2019.

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I.

Author information

1
Hokkaido Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan.
2
2Education Center, Asahikawa Medical University, Asahikawa, Japan.
3
3Department of Otolaryngology-Head and Neck Surgery, Asahikawa Medical University, Asahikawa, Japan.
4
4Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
5
5Risk Assessment Center, Aichi Cancer Center Hospital, Nagoya, Japan.

Abstract

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 (CDH23) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23.

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