Comprehensive analysis of syndromic hearing loss patients in Japan
Comprehensive analysis of syndromic hearing loss patients in Japan
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DOI：
10.1038/s41598-019-47141-4
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发表时间：
2019-08-19
影响因子：
4.6
通讯作者：
Usami, Shin-ichi
中科院分区：
文献类型：
--
作者：
Ideura, Michie;Nishio, Shin-ya;Usami, Shin-ichi
超过400种与听力损失和其他症状相关的综合征已被描述，相当于30%的遗传性听力损失病例。在这项研究中，我们的目的是通过使用下一代测序分析与多综合征靶向重测序面板（36个靶基因），澄清在日本综合征性听力损失患者的突变谱。我们分析了靶基因中的单核苷酸变异、小插入、缺失和拷贝数变异。我们招募了140名患有14种综合征的患者（BOR综合征、Waardenburg综合征、成骨不全、先天性脊椎骨骺发育不良、Stickler综合征、CHARGE综合征、Jervell和Lange-Nielsen综合征、Pendred综合征、Klippel-Feil综合征、Alport综合征、Norrie病、Treacher-Collins综合征、Perrault综合征和听神经病伴视神经萎缩），并在56%的患者中确定了致病变异。该分析可以在短时间内确定综合征性听力损失患者的致病变异，诊断率高。此外，它是有用的分析的情况下，只有部分符合诊断标准。
More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.