中华皮肤科杂志 ›› 2017, Vol. 50 ›› Issue (11): 810-814.doi: 10.3760/cma.j.issn.0412-4030.2017.11.008

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X连锁鱼鳞病并发Meleda角化病一例临床特征及SLURP-1和STS基因突变分析

王艳    汪慧君    林志淼    胡凌寒    潘玉雪    刘晓雁    杨勇   

  1. 100034 北京大学第一医院皮肤科［王艳 （现在山西医科大学第二医院皮肤科，030001 太原）、汪慧君、林志淼、胡凌寒、潘玉雪、杨勇］；首都儿科研究所附属儿童医院皮肤科（刘晓雁）
  • 收稿日期:2017-06-22 修回日期:2017-08-10 发布日期:2017-11-02
  • 通讯作者: 杨勇 E-mail:dryongyang@bjmu.edu.cn

A case of X-linked ichthyosis complicated by Mal de Meleda: clinical features and mutation analysis of the SLURP-1 and STS genes

Wang Yan, Wang Huijun, Lin Zhimiao, Hu Linghan, Pan Yuxue, Liu Xiaoyan, Yang Yong   

  1. Department of Dermatology, Peking University First Hospital, Beijing 100034, China （Wang Y［current affiliation: Department of Dermatology, The Second Hospital of Shanxi Medical University, Taiyuan 030001, China］, Wang HJ, Lin ZM, Hu LH, Pan YX, Yang Y）; Department of Dermatology, Children′s Hospital, Capital Institute of Pediatrics, Beijing 100020, China （Liu XY）
  • Received:2017-06-22 Revised:2017-08-10 Published:2017-11-02
  • Contact: Yong Yang E-mail:dryongyang@bjmu.edu.cn

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摘要： 目的 报道1例X连锁鱼鳞病并发Meleda角化病，并检测其基因突变。方法 收集临床资料，提取患儿及其父母外周血基因组DNA，PCR 扩增SLURP?1和STS基因全部外显子及其侧翼序列，以100例健康人作为对照，对扩增产物行琼脂糖凝胶电泳检测，并对SLURP?1基因扩增产物进行DNA测序。结果 患儿躯干、四肢泛发规则排列的棕褐色或黑色多角形鳞屑，掌跖、肘膝、腹股沟、肛周红斑，过度角化，向背侧延伸，诊断为X连锁鱼鳞病并发Meleda角化病。基因检测提示，STS全基因缺失；SLURP?1基因第3外显子第286位核苷酸发生C→T纯合突变（c.286C＞T），导致其编码蛋白质在第96位氨基酸出现终止改变（p.R96*），其父母均为c.286C > T 杂合突变携带者。健康对照未发现此突变。结论 该患者携带STS全基因缺失和SLURP?1基因纯合无义突变，可能是导致X连锁鱼鳞病并发Meleda角化病的原因。

关键词: 基因, SLURP-1

Abstract: Wang Yan, Wang Huijun, Lin Zhimiao, Hu Linghan, Pan Yuxue, Liu Xiaoyan, Yang Yong Department of Dermatology, Peking University First Hospital, Beijing 100034, China （Wang Y［current affiliation: Department of Dermatology, The Second Hospital of Shanxi Medical University, Taiyuan 030001, China］, Wang HJ, Lin ZM, Hu LH, Pan YX, Yang Y）; Department of Dermatology, Children′s Hospital, Capital Institute of Pediatrics, Beijing 100020, China （Liu XY） Corresponding author: Yang Yong, Email: dryongyang@bjmu.edu.cn 【Abstract】 Objective To report a case of X-linked ichthyosis complicated by Mal de Meleda, and to identify the gene mutations. Methods Clinical data were collected from the patient, and peripheral blood samples were obtained from the patient, his parents and 100 unrelated healthy people who served as controls. Genomic DNA was extracted from these blood samples, and PCR was performed to amplify all the exons and their flanking sequences of the SLURP-1 and STS genes. All the amplification products were analyzed by agarose gel electrophoresis, and amplification products of the SLURP-1 gene were analyzed by DNA sequencing. Results The patient presented with regularly-arranged polygonal brown or black scales all over the trunk and limbs, erythematous hyperkeratotic lesions on the palms and soles, elbows and knees, inguinal and perianal regions, which extended to the dorsa of the hands and feet. Then, the patient was diagnosed with X-linked ichthyosis complicated by Mal de Meleda. Genetic testing showed complete deletion of the STS gene, and a homozygous mutation （c.286C > T） at position 286 in exon 3 of the SLURP-1 gene, which led to the formation of a premature termination codon at amino acid position 96 （p.R96*）. His parents were heterozygous carriers of the mutation（c.286C > T）. No mutation was found in the unrelated healthy controls. Conclusion The complete deletion of the STS gene and the homozygous nonsense mutation in the SLURP-1 gene may be the reason for X-linked ichthyosis complicated by Mal de Meleda in the patient.

引用本文

王艳 汪慧君 林志淼 胡凌寒 潘玉雪 刘晓雁 杨勇. X连锁鱼鳞病并发Meleda角化病一例临床特征及SLURP-1和STS基因突变分析[J]. 中华皮肤科杂志, 2017,50(11):810-814. doi:10.3760/cma.j.issn.0412-4030.2017.11.008

Wang Yan, Wang Huijun, Lin Zhimiao, Hu Linghan, Pan Yuxue, Liu Xiaoyan, Yang Yong. A case of X-linked ichthyosis complicated by Mal de Meleda: clinical features and mutation analysis of the SLURP-1 and STS genes[J]. Chinese Journal of Dermatology, 2017, 50(11): 810-814.doi:10.3760/cma.j.issn.0412-4030.2017.11.008