Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models
Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models
复制标题
结合基因组和线粒体遗传模型的聋人表型和基因型
DOI：
10.1016/j.mito.2013.05.004
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发表时间：
2013-11-01
期刊：
影响因子：
4.4
通讯作者：
Dai, Pu
中科院分区：
文献类型：
--
作者：
Huang, Shasha;Wang, Guojian;Dai, Pu
在大多数研究中，感音神经性听力损失被报道为常染色体显性或常染色体隐性的单基因疾病，或X连锁或母系遗传。由基因组和线粒体模型联合遗传引起的听力损害并不常见。在这里，我们报告了6例由GJB2或SLC26A4和线粒体基因共存突变引起的感音神经性听力损失患者。6例患者的听力表型与对照组相比无显著性差异。结果表明，复杂的遗传病因，并可能影响诊断策略，遗传性听力障碍。所有患者的兄弟姐妹都将携带线粒体DNA A1555G或C1494T突变，25%的兄弟姐妹可能在GJB2或SLC26A4中携带相同的纯合子或复合杂合子突变。虽然这种联合遗传在中国耳聋人群中并不常见（0.10%），但我们的研究结果将对耳聋的遗传咨询和风险预测产生重要影响。(C)2013 Elsevier B.V.和线粒体研究学会。All rights reserved.
In most studies, sensorineural hearing loss is reported as a single-gene disease with autosomal dominant or autosomal recessive or with X-linked or maternal inheritance. It is uncommon that the hearing impairment is caused by a combined inheritance model including genomic and mitochondrial models. Here, we report six patients with sensorineural hearing loss caused by co-existing mutations in GJB2 or SLC26A4 and the mitochondrial gene. And there was no significant difference in hearing phenotypes between the six patients and the controls. The results indicate the complicated genetic etiology of, and may impact the diagnostic strategy for, hereditary hearing impairment. All patient siblings will carry mitochondrial DNA A1555G or C1494T mutations, and 25% of siblings may carry the same homozygous or compound heterozygote mutations in GJB2 or SLC26A4. Although this combined inheritance is not common in the Chinese deaf population (0.10%), our findings will have great impact in genetic counseling and risk prediction for deafness. (C) 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.