Motavaf Mahsa, Soveizi Mahdieh, Maleki Majid, Mahdieh Nejat
Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.
Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Int J Pediatr Otorhinolaryngol. 2017 May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6.
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.
感音神经性听力损失（SNHL）是人类中最常见的遗传性感觉缺陷，全球约每1000名新生儿中就有1人受其影响。非综合征性SNHL占遗传性听力损失的近70%，且80%的SNHL病例呈现常染色体隐性遗传模式（ARNSHL）。在本研究中，我们对一个有一名先天性感音神经性听力损失先证者的家系应用了靶向外显子组测序。对127个已知基因进行测序以寻找致病突变。在MYO15A基因中发现了一个新的纯合供体剪接位点突变，即c.4596 + 1G > A（IVS12 + 1G > A）。对该家系内此突变的分析表明，该突变与听力损失共分离。新的DNA测序技术可能会导致鉴定出致病变异，尤其是在诸如听力损失这种高度异质性的疾病中。
