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.
Adenosine Deaminase
/ genetics
Autoimmune Diseases of the Nervous System
/ complications
Brain
/ diagnostic imaging
Child, Preschool
Heterozygote
Humans
India
Infant
Magnetic Resonance Imaging
Mutation
Nervous System Malformations
/ complications
Phenotype
Pigmentation Disorders
/ complications
RNA-Binding Proteins
/ genetics
Journal
Clinical and experimental dermatology
ISSN: 1365-2230
Titre abrégé: Clin Exp Dermatol
Pays: England
ID NLM: 7606847
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
revised:
12
10
2020
received:
26
07
2020
accepted:
30
11
2020
pubmed:
9
12
2020
medline:
16
11
2021
entrez:
8
12
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
RNA-Binding Proteins
0
ADAR protein, human
EC 3.5.4.37
Adenosine Deaminase
EC 3.5.4.4
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
704-709Informations de copyright
© 2020 British Association of Dermatologists.
Références
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Schmelzer L, Smitka M, Wolf C et al. Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. Eur J Paediatr Neurol 2018; 22: 186-9.
Wang P, Yu S, Liu J et al. Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China. Mol Genet Genomic Med 2019; 7: e00905.
Kono M, Matsumoto F, Suzuki Y et al. Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome 6 are phenotypic variants caused by ADAR1 mutations. J Invest Dermatol 2016; 136: 875-8.
Wang X-P, Liu Y, Wang J-M, Xiao S-X. Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. J Dermatol 2010; 37: 1051-2.
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