Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

Abstract:

:Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.

journal_name

Clin Exp Dermatol

authors

Sathishkumar D,Muthusamy K,Gupta A,Malhotra M,Thomas M,Koshy B,Jasper A,Danda S,George R

doi

10.1111/ced.14531

subject

Has Abstract

pub_date

2020-12-07 00:00:00

eissn

0307-6938

issn

1365-2230

pub_type

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