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

Zhou,Qian; Zhang,Linglin; Zhang,Yunfeng; Luo,Hao; Zhu,Lude; Wang,Peiru; Zhang,Guolong; Wang,Xiuli

doi:10.3892/mmr.2017.6427

June-2017 Volume 15 Issue 6

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June-2017 Volume 15 Issue 6

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Article

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

Authors:
- Qian Zhou
- Linglin Zhang
- Yunfeng Zhang
- Hao Luo
- Lude Zhu
- Peiru Wang
- Guolong Zhang
- Xiuli Wang
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Affiliations: Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China
Pages: 3715-3718
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Published online on: April 3, 2017

https://doi.org/10.3892/mmr.2017.6427
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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.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

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

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