外显子组测序
色素性视网膜炎
医学
Usher综合征
复合杂合度
疾病基因鉴定
先天性听力损失
听力损失
感音神经性聋
遗传学
基因检测
外显子组
全基因组测序
DNA测序
生物信息学
突变
听力学
基因组
基因
眼科
生物
内科学
视网膜
作者
Khushnooda Ramzan,Mohammed Al‐Owain,Rozeena Huma,Selwa A.F. Al-Hazzaa,Sarah Al‐Ageel,Faiqa Imtiaz,Moeenaldeen AlSayed
标识
DOI:10.1016/j.ijporl.2018.02.016
摘要
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis. Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa. The index patient, a 2-year-old child was initially diagnosed with nonsyndromic hearing impairment. Homozygosity mapping followed by CES was utilized as a diagnostic tool to identify the genetic basis of his hearing loss. A paternally inherited novel insertion, c.198_199insA (p.Val67Serfs*73) and a maternally inherited novel deletion, c.1219_1226del (p.Phe407Aspfs*33) in gene MYO7A were found in compound heterozygous state in the index patient. The result expands the mutational spectrum of MYO7A. In addition it helped in early diagnosis of the syndrome, for planning and adjustments for the patient, and as well as for future family planning. This study highlights the clinical effectiveness of CES for Usher syndrome diagnosis in a child presented with congenital hearing loss.
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