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

Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M. Girisha, Anju Shukla

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)156-160
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number1
DOIs
Publication statusPublished - 01-01-2018

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Exome
Lymphocytosis
Virus Diseases
Nervous System Diseases
Interferons
Genes
Cerebrospinal Fluid
White Matter

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hebbar, Malavika ; Kanthi, Anil ; Shrikiran, Aroor ; Patil, Snehal ; Muranjan, Mamta ; Francis, Febi ; Bhat B, Vishnu ; Girisha, Katta M. ; Shukla, Anju. / p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 1. pp. 156-160.
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p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome. / Hebbar, Malavika; Kanthi, Anil; Shrikiran, Aroor; Patil, Snehal; Muranjan, Mamta; Francis, Febi; Bhat B, Vishnu; Girisha, Katta M.; Shukla, Anju.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 1, 01.01.2018, p. 156-160.

Research output: Contribution to journalArticle

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