目的:中国东南部(福建)非综合征性听力损失(NSHL)的分子病因尚未得到准确鉴定。我们的研究选择了NSHL患者并分析了他们的致病基因,这有助于提高遗传性耳聋(HHL)的诊断及其治疗的准确性。
方法:251例因听力损失而在福建省妇幼保健院耳鼻咽喉科门诊就诊的无关患者纳入本研究。所有患者都进行了基因测试和听力测试,其中251例被诊断为NSHL。此外,我们对一名有明显HHL家族史但基因芯片检测阴性的患者使用了全外显子组测序(WES),以及他的家人。
结果:在251名患者中,63例(25.09%)发现核苷酸改变,包括位于GJB2的34个(13.5%,包括235delC和299_300delAT),13位于SLC26A4(5.18%,包括c.919-2G>A和2168A>G),1位于GJB3(0.4%,538C>T)和16个位于mtDNA12SrRNA(6.37%,1555A>G)。此外,我们讨论了从251例患者中鉴定新的PLS1突变的过程.
结论:我们的结果表明,福建251例NSHL患者的常规耳聋基因突变,中国。与中国其他地区相比,我们的检出率较低,但GJB2235delC仍然是福建地区最常见的突变。此外,我们讨论了发现耳聋新突变位点的过程,这为耳聋诊断和基因检测提供了理解。
OBJECTIVE: The molecular etiology of non-syndromic hearing loss (NSHL) in Southeastern
China (Fujian) has not been precisely identified. our study selected patients with NSHL and analyzed their causative genes, which helped to improve the accuracy of the diagnosis of hereditary hearing loss (HHL) and its treatment.
METHODS: 251 unrelated patients who attended the otolaryngology clinic of Fujian Maternal and Child Health Hospital with hearing loss were enrolled to our study. All patients had genetic tests and listening tests, of which 251 were diagnosed with NSHL. In addition, we used whole-exome sequencing (WES) in a patient who has a significant family history of HHL but negative for gene chip testing, as well as in his family members.
RESULTS: Among of 251 patients, Nucleotide changes were found in 63 cases (25.09%), including 34 located in GJB2(13.5%, including 235delC and 299_300delAT), 13 located in SLC26A4(5.18%, including c.919-2G > A and 2168 A > G), 1 located in GJB3(0.4%,538C > T) and 16 located in mtDNA12SrRNA (6.37%,1555 A > G). In addition, we discuss the process of identifying novel PLS1 mutations from 251 patients.
CONCLUSIONS: Our results demonstrate the conventional deafness gene mutation in 251 NSHL patients in Fujian,
China. Compared with the other area of
China, we have a lower detection rate, but GJB2 235delC remains the most common mutation in Fujian. In addition, we discuss the process of discovering novel mutation locus for deafness, which provides an understanding for deafness diagnosis and genetic testing.