一名1型Usher综合征患者中的新型复合杂合变异体。
Novel compound heterozygous variants in a patient with Usher syndrome type I.
作者信息
Okano Satomi, Makita Yoshio, Katada Akihiro, Harabuchi Yasuaki, Kohmoto Tomohiro, Naruto Takuya, Masuda Kiyoshi, Imoto Issei
机构信息
Hokkaido Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan.
2Education Center, Asahikawa Medical University, Asahikawa, Japan.
出版信息
Hum Genome Var. 2019 Jan 28;6:8. doi: 10.1038/s41439-019-0037-y. eCollection 2019.
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 () gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of .
I型Usher综合征（USH1）的特征为先天性、双侧性、重度感音神经性听力损失、前庭反射消失以及青少年期发病的色素性视网膜炎。在此，我们报告一名患有典型USH1的12岁女性患者。靶向基因panel测序揭示了（）基因的复合杂合变异，这证实了USH1的诊断。鉴定出一个新的NM_022124.5:c.130G>A/p.(Glu44Lys)变异，扩展了（）的突变谱。
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