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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
Author(s) -
Sathishkumar D.,
Muthusamy K.,
Gupta A.,
Malhotra M.,
Thomas M.,
Koshy B.,
Jasper A.,
Danda S.,
George R.
Publication year - 2021
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.14531
Subject(s) - genetics , compound heterozygosity , allele , phenotype , medicine , dermatology , biology , gene
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.