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

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.

SUBMITTER: Okano S 

PROVIDER: S-EPMC6348282 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Novel compound heterozygous <i>CDH23</i> variants in a patient with Usher syndrome type I.

Okano Satomi S   Makita Yoshio Y   Katada Akihiro A   Harabuchi Yasuaki Y   Kohmoto Tomohiro T   Naruto Takuya T   Masuda Kiyoshi K   Imoto Issei I  

Human genome variation 20190128

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 <i>Cadherin 23</i> (<i>CDH23</i>) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of <i>CDH23</i>. ...[more]

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