P.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. Issue 1 (17th November 2017)

• Record Type: Journal Article
• Authors: Hebbar, Malavika; Kanthi, Anil; Shrikiran, Aroor; Patil, Snehal; Muranjan, Mamta; Francis, Febi; Bhat B, Vishnu; Girisha, Katta M; Shukla, Anju
• Is Part Of: American journal of medical genetics. Volume 176:Issue 1(2018)
• Page Start: 156
• Page End: 160
• Publication Date: 2017-11-17
• Subjects: Aicardi–Goutières syndrome -- founder mutation -- India -- leukodystrophy; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38522
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : 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.