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Abstract：
Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital sensorineural hearing loss. 127 known genes were sequenced to find the causative mutation. One novel homozygous donor splice site mutation, c.4596 + 1G > A (IVS12 + 1G > A) was found in MYO15A gene. Analysis of this mutation within the family showed that the mutation segregates with hearing loss. New DNA sequencing technologies could lead to identification of the disease causing variants especially in highly heterogeneous disorders such as hearing loss.
摘要：
感觉神经性听力损失（SNHL）是人类最普遍的遗传感觉缺陷，影响全世界每1000个新生儿中就有一个。非综合征性SNHL占遗传性听力损失的近70％，80％的SNHL病例表现出常染色体隐性遗传方式（ARNSHL）。在本研究中,我们将靶向外显子组测序应用于患有先天性感音神经性听力损失的单一先证者家庭.对127个已知基因进行测序以发现致病突变。一个新的纯合供体剪接位点突变，在MYO15A基因中发现c.4596+1G>A(IVS12+1G>A)。对家族内此突变的分析表明，该突变与听力损失分离。新的DNA测序技术可能导致识别引起疾病的变异，特别是在高度异质性的疾病中，如听力损失。
