Article
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
American journal of medical genetics. Part A - 1 Jan 2018
Hebbar Malavika, Kanthi Anil, Shrikiran Aroor, Patil Snehal, Muranjan Mamta, Francis Febi, Bhat B Vishnu, Girisha Katta M, Shukla Anju
Abstract excerpt
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...
Topics
- Alleles
- Amino Acid Substitution
- Autoimmune Diseases of the Nervous System
- Brain
- Chromosome Mapping
- Consanguinity
- Female
- Founder Effect
- Genetic Association Studies
- Homozygote