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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.

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


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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