Background Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA-Specific (ADAR;OMIM: *146920) gene was identified as causing DSH. Although more than 200 mutations are reported, no research has included the pedigrees of ethnic minorities in China. To investigate clinical features and genetic factors among multi-ethnic families, seven multi-ethnic pedigrees with DSH were collected for analysis of hereditary characteristics and ADAR mutations. Methods All 15 exons and exon-intron sequences of the ADAR gene were amplified and Sanger sequenced from 25 patients and 36 normal controls from seven multi-ethnic DSH families with 100 healthy normal controls. Seven mutations were analyzed by Polyphen 2, SIFT and Provean. All mutations in ADAR with DSH were reviewed and genetic and clinical features were summarized for analysis. The ADEAMc domain may be a hot spot of ADAR mutations among patients with DSH. Results Seven novel mutations were identified in seven multi-ethnic pedigrees: c.497delA(p.Arg105fs), c.3352C>T(p.Gln1058*) and c.3722delT(p.Ser1181fs) were found in three Uygur families with DSH; c.1330A>G(p.Val332Met) and c.2702A>T(p.His841Leu) were found in two Kazakh pedigrees and c.1176G>A(p.Lys326Glu) and c.2861G>A(p.Arg892His) in two Hui pedigrees. We summarized 203 different mutations of ADAR from people with DSH. Conclusions Seven novel mutations were identified in seven multi-ethnic families with DSH. Our study expands the genetic spectrum of ADAR mutations in DSH.

Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.

Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. We report the first case of DSH, which is associated with cutaneous lupus erythematosus and hyperthyroidism.

/pdf/dyschromatosis-symmetrica-hereditaria-with-cutaneous-lupus-2pb7v2xajx.pdf

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism.

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.

/pdf/two-novel-adar1-gene-mutations-in-two-patients-with-2hgscc0k3l.pdf

Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth.

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals. Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1.5% agarose gel electrophoresis. The coding exons and intron/exon flanking regions followed by bidirectional sequencing was performed on all participants. In this study, we found that a 28 year-old male patient harbouring a deleterious substitution of Leu1052Pro in the ADAR1 gene in a typical DSH family. His mother suffered from the DSH also owns the same mutation. This mutation, however, is not identified in the unaffected members in this family and those 200 normal controls. In summary, this new mutation Leu1052Pro reported here is pathogenic and detrimental for DSH. Our finding not only enriches mutation database and contributes to dissecting further the correlation between mutation position and phenotypical features of DSH, but also provides genetics counselling and prenatal diagnostic testing for childbearing couple.

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.

Dyschromatosis symmetrica hereditaria (DSH) is a pigmented genetic skin disorder with an incompletely understood pathogenesis characterized by reticular hyper- and hypopigmented skin patches on the dorsal aspect of the extremities, freckle-like patches on the face, and unaffected palms and feet. There is no effective treatment available. Glucose-6-phosphate dehydrogenase (G6PD) deficiency has not been reported in the literature of DSH. We describe for the first time a case of DSH with G6PD deficiency and a family history of psychosis. 

A Case Report of Dyschromatosis Symmetrica Hereditaria with Glucose-6-Phosphate Dehydrogenase Deficiency

Background
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene.

/pdf/genetic-spectrum-of-dyschromatosis-symmetrica-hereditaria-in-1hz9ycpywd.pdf

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.

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Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.