title: Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is a rare type of pigmentary genodermatosis, which is autosomal dominantly inherited with high penetrance. The onset of DSH is typically during infancy or childhood. Cases of patients born with skin lesions have rarely been reported. Additionally, there have been few significant non‑cutaneous complications reported with DSH. The present study reported two sporadic cases of patients born with DSH, confirmed by the identification of ADAR1 mutations. Additionally, comorbidity of DSH, congenital heart disease (CHD) and hemangioma disease were first reported. In the patient with isolated DSH from birth, a nonsense mutation (p.Y1192X) was identified, whereas in the second patient with DSH, CHD and hemangioma from birth, a frameshift mutation (p.Glu673ValfsX652) in ADAR1 was identified. To the best of the authors' knowledge, >120 mutations in ADAR1 have been reported to cause DSH; however, no previous studies have reported mutations in ADAR1 in DSH at birth, with CHD and hemangioma. The novel variants described in the current study add to the current knowledge of ADAR1 mutations in DSH.
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Linglin
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Yunfeng
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Hao
authors.initials: H
authors.lastname: Luo
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Lude
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Peiru
authors.initials: P
authors.lastname: Wang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Guolong
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000483:Alleles; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D010859:Pigmentation Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase