Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients
Eray Yihui Zhou
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Department of Dermatology, Beijing Tsinghua Changgung Hospital, Medical Center, Tsinghua University, Beijing, China
Search for more papers by this authorHuijun Wang
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China
Search for more papers by this authorZhimiao Lin
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorGuiwen Xu
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorZhihong Ma
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorJiahui Zhao
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorCheng Feng
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorLina Duo
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Search for more papers by this authorJinghua Yin
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorCorresponding Author
Yong Yang
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Correspondence: Yong Yang, M.D., Department of Dermatology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing 100034, China. Email: [email protected]Search for more papers by this authorEray Yihui Zhou
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Department of Dermatology, Beijing Tsinghua Changgung Hospital, Medical Center, Tsinghua University, Beijing, China
Search for more papers by this authorHuijun Wang
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China
Search for more papers by this authorZhimiao Lin
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorGuiwen Xu
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorZhihong Ma
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorJiahui Zhao
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorCheng Feng
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorLina Duo
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Search for more papers by this authorJinghua Yin
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Search for more papers by this authorCorresponding Author
Yong Yang
Department of Dermatology, Peking University First Hospital, Beijing, China
Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China
Peking-Tsinghua Center for Life Sciences, Beijing, China
Correspondence: Yong Yang, M.D., Department of Dermatology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing 100034, China. Email: [email protected]Search for more papers by this authorAbstract
Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle-like pigmentation on sun-exposed sites while patients with XP-A, XP-D, XP-F and XP-G showed acute sunburn reactions. Only XP-A patients displayed progressive neurological degeneration. A relatively larger proportion of XP-A and XP-C were found in Chinese XP patients. One XP case and two carriers were prenatally determined. This study extended the mutation spectrum of XP in China and may aid in the diagnosis and treatment of Chinese XP patients.
Supporting Information
| Filename | Description |
|---|---|
| jde13576-sup-0001-FigS1.docxWord document, 426 KB | Figure S1. Representative screened mutations of patients in each complementation group, including (a) XPA c.389+1G>T and c.631C>T of XP1PF, (b) XPC c.155C>G of XP18PF, (c) ERCC2 c.1805G>A and c.1996C>T of XP17PF, (d) ERCC4 c.1831G>A and c.2018-2A>C of XP14PF, (e) homozygous ERCC5 c.409_410insTT of the brothers XP12PF and (f) XP13PF, POLH c.353_354insA of XP11PF, and (g) the Japanese founder XPA mutation c.390-1G>C of XP2PF. |
| jde13576-sup-0002-TableS1.docWord document, 132 KB | Table S1. List of the primers for six complementation groups (XPA/XPA, XPC/XPC, XPD/ERCC2, XPF/ERCC4, XPG/ERCC5, XPV/POLH). |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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