Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences.
Gene. 2019 Aug 5;708:10-13. doi: 10.1016/j.gene.2019.05.016. Epub 2019 May 10.
Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we present ADCK3; del.CD (229-230) mutation in an Iranian consanguineous family with three cerebellar ataxic boys using whole exome sequencing. The mutation was predicted pathogenic and all the affected individuals were homozygous for the variant. Although, the ADCK3 was previously reported as one of the master genes of ARSC, our mutation was novel as has been not previously reported in dbSNP or literature.
常染色体隐性小脑共济失调是一种异质性遗传性神经退行性疾病，涉及 70 多个相关基因。下一代测序技术的发展为医学遗传学实验室中这种异质性疾病的快速诊断开辟了新的窗口。在这里，我们使用外显子组测序在一个伊朗近亲家庭中发现了三个小脑共济失调男孩，他们携带 ADCK3;del.CD（229-230）突变。该突变被预测为致病性的，所有受影响的个体均为该变异的纯合子。尽管 ADCK3 先前被报道为 ARSC 的主要基因之一，但我们的突变是新颖的，因为在 dbSNP 或文献中尚未报道过。
