TY - JOUR
T1 - p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome
AU - Hebbar, Malavika
AU - Kanthi, Anil
AU - Shrikiran, Aroor
AU - Patil, Snehal
AU - Muranjan, Mamta
AU - Francis, Febi
AU - Bhat B, Vishnu
AU - Girisha, Katta M.
AU - Shukla, Anju
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.38522
DO - 10.1002/ajmg.a.38522
M3 - Article
AN - SCOPUS:85034264011
SN - 1552-4825
VL - 176
SP - 156
EP - 160
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -