Article
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
The Annals of otology, rhinology, and laryngology - 1 May 2015
Moteki Hideaki, Yoshimura Hidekane, Azaiez Hela, Booth Kevin T, Shearer A Eliot, Sloan Christina M, Kolbe Diana L, Murata Toshinori, Smith Richard J H, Usami Shin-Ichi
Abstract excerpt
OBJECTIVE: We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). METHODS: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss. RESULTS: We...
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