Open AccessNovel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Author(s) -
Satomi Okano,
Yoshio Makita,
Akihiro Katada,
Yasuaki Harabuchi,
Tomohiro Kohmoto,
Takuya Naruto,
Kiyoshi Masuda,
Issei Imoto
Publication year - 2019
Publication title -
human genome variation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.796
H-Index - 14
ISSN - 2054-345X
DOI - 10.1038/s41439-019-0037-y
Subject(s) - usher syndrome , compound heterozygosity , retinitis pigmentosa , medicine , genetics , hearing loss , congenital hearing loss , sensorineural hearing loss , mutation , audiology , gene , biology
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 .