Hebbar Malavika, Kanthi Anil, Shrikiran Aroor, Patil Snehal, Muranjan Mamta, Francis Febi, Bhat B Vishnu, Girisha Katta M, Shukla Anju
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17.
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c.205C>T (NM_032193.3, p.Arg69Trp) in RNASEH2C gene identified by whole-exome sequencing and targeted molecular testing of the variant. Review of literature and our data suggest this is likely to be a founder variant in Asians and it would be a good initial variant to screen in patients with Aicardi-Goutières syndrome in Indians.
艾卡迪-古铁雷斯综合征是一种早发性严重神经系统疾病，其特征为颅内钙化、白质异常、肝脾肿大、脑脊液淋巴细胞增多以及干扰素-α水平升高，因而酷似先天性病毒感染。它是一种基因异质性疾病，有常染色体隐性和常染色体显性两种形式，迄今已知有七个基因存在变异。RNASEH2C基因变异会导致艾卡迪-古铁雷斯综合征的常染色体隐性形式。在此，我们报告三个印度家庭，通过全外显子组测序和该变异的靶向分子检测，在RNASEH2C基因中鉴定出c.205C>T（NM_032193.3，p.Arg69Trp）变异。文献回顾及我们的数据表明，这可能是亚洲人的一个始祖变异，对于印度艾卡迪-古铁雷斯综合征患者而言，它将是一个很好的初始筛查变异。
