通过全基因组测序诊断为轻度色素性补体D组干皮病的儿童10年随访

Photodermatology Pub Date : 2016-07-01 DOI:10.1111/phpp.12240

R. Ono, T. Masaki, Franklin Mayca Pozo, Y. Nakazawa, S. Swagemakers, E. Nakano, W. Sakai, Seiji Takeuchi, F. Kanda, T. Ogi, P. Spek, K. Sugasawa, C. Nishigori

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引用次数: 11

摘要

大多数来自西方国家的着色性干皮病补体D组(XP‐D)患者有神经系统症状，而日本患者只有皮肤表现而无神经系统症状。我们之前提出，XP - D患者临床表现的这些差异部分归因于ERCC2的显性突变，而S541R的等位基因频率在日本最高。

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A 10‐year follow‐up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole‐genome sequencing

Most patients with xeroderma pigmentosum complementation group D (XP‐D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in XP‐D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of S541R is highest in Japan.

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Photodermatology

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