p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome

Hebbar, Malavika and Kanthi, Anil and Hebbar, Shrikiran and Girisha, KM and Shukla, Anju (2018) p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. American Journal of Medical Genetics Part - A, 176 A (1). pp. 156-160. ISSN 1552-4833

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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 knowntill 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.

Item Type: Article
Uncontrolled Keywords: Aicardi–Goutières syndrome; founder mutation; India; leukodystrophy.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 20 Dec 2017 09:20
Last Modified: 20 Dec 2017 09:20
URI: http://eprints.manipal.edu/id/eprint/150320

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