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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-01-28 , DOI: 10.1038/s41439-019-0037-y Satomi Okano 1 , Yoshio Makita 2 , Akihiro Katada 3 , Yasuaki Harabuchi 3 , Tomohiro Kohmoto 4 , Takuya Naruto 4 , Kiyoshi Masuda 4 , Issei Imoto 4, 5
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-01-28 , DOI: 10.1038/s41439-019-0037-y Satomi Okano 1 , Yoshio Makita 2 , Akihiro Katada 3 , Yasuaki Harabuchi 3 , Tomohiro Kohmoto 4 , Takuya Naruto 4 , Kiyoshi Masuda 4 , Issei Imoto 4, 5
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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.
中文翻译：
I型Usher综合征患者的新型复合杂合CDH23变体。
I型Usher综合征（USH1）的特征是先天性，双侧性，严重的感音神经性听力丧失，前庭反射不全和青少年期色素性视网膜炎。在这里，我们报告了一名典型的USH1的12岁女性患者。有针对性的小组测序揭示了钙粘蛋白23（CDH23）基因的复合杂合变体，证实了USH1的诊断。鉴定了新颖的NM_022124.5：c.130G> A / p。（Glu44Lys），扩大了CDH23的突变谱。
更新日期：2019-11-18
中文翻译：
I型Usher综合征患者的新型复合杂合CDH23变体。
I型Usher综合征（USH1）的特征是先天性，双侧性，严重的感音神经性听力丧失，前庭反射不全和青少年期色素性视网膜炎。在这里，我们报告了一名典型的USH1的12岁女性患者。有针对性的小组测序揭示了钙粘蛋白23（CDH23）基因的复合杂合变体，证实了USH1的诊断。鉴定了新颖的NM_022124.5：c.130G> A / p。（Glu44Lys），扩大了CDH23的突变谱。
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