Update on an Asian Indian Family With Apparent Autosomal Recessive Charcot-Marie-Tooth Disease Caused by a Mutation in the HSPB1 Gene

L. R. Peddareddygari, Kinsi Oberoi, R. Grewal
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Abstract

Background: We described an Asian Indian family with a genetic neuropathy previously in the Journal of Neurology Research, 2012. In that publication, we speculated that a deletion mutation in the PRX gene may have contributed to the development of the neuropathy. In this family, there is significant phenotypic variability which created difficulties establishing the mode of transmission which appeared to be autosomal recessive. We now present our updated analysis with additional clinical and genetic data. Methods: We obtained clinical and phenotype data on additional members of this family. We performed whole exome sequencing on the index patient and targeted genotyping of other members of the family. Results: Our updated analysis establishes the pattern of inheritance of this neuropathy as autosomal dominant and caused by a mutation in the HSPB1 gene, R140G. The R140G mutation has been previously reported in a number of unrelated families originating from Gujarat, the same Indian state as the subjects of this study. Conclusions: The collective genetic analysis of this mutation in the Gujarati families suggests the presence of a founder effect of the R140G mutation in this population. Our investigation of this family demonstrates the capacity of next generation sequencing in facilitating the ability to make a specific genetic diagnosis. J Neurol Res. 2019;9(4-5):60-64 doi: https://doi.org/10.14740/jnr547
一个由HSPB1基因突变引起的明显常染色体隐性沙克-玛丽-牙病的亚洲印度家庭的最新情况
背景:我们在2012年的《神经病学研究杂志》上描述了一个患有遗传性神经病变的亚洲印度家庭。在那篇文章中,我们推测PRX基因的缺失突变可能导致了神经病变的发展。在这个家族中,有显著的表型变异,这造成了建立传播模式的困难,似乎是常染色体隐性的。我们现在用额外的临床和遗传数据提出我们最新的分析。方法:我们获得了该家族其他成员的临床和表型数据。我们对索引患者进行了全外显子组测序,并对该家族的其他成员进行了靶向基因分型。结果:我们最新的分析确定了这种神经病变的遗传模式为常染色体显性,由HSPB1基因R140G突变引起。R140G突变以前曾在来自古吉拉特邦的一些不相关家庭中报道过,古吉拉特邦与本研究的受试者相同。结论:对古吉拉特家族中该突变的集体遗传分析表明,该人群中存在R140G突变的创始效应。我们对这个家庭的调查显示了下一代测序在促进特定基因诊断方面的能力。中华神经科学杂志,2019;9(4-5):60-64 doi: https://doi.org/10.14740/jnr547
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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