[1]汪丹,何永萍,李仲桃,等.先天性非大疱性鱼鳞病样红皮病1例及其家系突变基因的检测[J].中国皮肤性病学杂志,2016,(11):1116-1119.[doi:10.13735/j.cjdv.1001-7089.201603084]
 WANG Dan,HE Yong-ping,LI Zhong-tao,et al.Non-bullous Congenital Ichthyosiform Erythroderma: A Case Report and Mutation Analysis[J].The Chinese Journal of Dermatovenereology,2016,(11):1116-1119.[doi:10.13735/j.cjdv.1001-7089.201603084]
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先天性非大疱性鱼鳞病样红皮病1例及其家系突变基因的检测
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2016年11期
页码:
1116-1119
栏目:
论著
出版日期:
2016-11-01

文章信息/Info

Title:
Non-bullous Congenital Ichthyosiform Erythroderma: A Case Report and Mutation Analysis
作者:
汪丹何永萍李仲桃汪盛
四川大学华西医院皮肤性病科,四川 成都 610041
Author(s):
WANG Dan HE Yong-ping LI Zhong-taoWANG Sheng
Department of Dermatovenereology, West China Hospital of Sichuan University, Chengdu 610041, China
关键词:
红皮病鱼鳞病样非大疱性先天性 NIPAL4 突变
Keywords:
Non-bullous congenital ichthyosiform erythroderm NIPAL4 Mutation
分类号:
R 758.67
DOI:
10.13735/j.cjdv.1001-7089.201603084
文献标志码:
A
摘要:
目的 报告1例先天性非大疱性鱼鳞病样红皮病(non-bullous congenital ichthyosiform erythroderma,NBCIE)患者,并进行相关致病基因的突变研究。 方法 收集患者及其父母的临床资料及外周血,提取基因组DNA,PCR扩增TGMl,ALOXl2B,ALOXE3,ABCA12,CYP4F22,NIPAL4基因外显子及剪切位点序列,通过DNA测序寻找基因突变。 结果 发现患者NIPAL4基因第2号外显子存在一个纯合无义突变c.433C>T,导致该处密码子由CGA变成TGA, 使得第145位氨基酸由精氨酸(R)变为终止密码(p.R145X)。患者父母均为该突变杂合携带者。结论 国内尚无NBCIE患者相关致病基因突变的报道,本研究显示NIPAL4基因c.433C>T突变可能是本例NBCIE患者发病的分子学基础。
Abstract:
Objective To report a case of non-bullous congenital ichthyosiform erythroderma(NBCIE)and to analyze the mutations in the disease-related genes.Methods Clinical data were collected and blood samples were obtained from a 33 year-old patient with NBCIE and his parents. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the TGMl, ALOXl2B, ALOXE3, ABCA12, CYP4F22 and NIPAL4 genes followed by bidirectional sequencing.Results A homozygous nonsense mutation c.433C>T,which results in the premature stop codon TGA at amino acid position 145(p.R145X),was found in exon 2 of the NIPAL4 gene in the patient. His parents were found to be heterozygous for this mutation.Conclusion To the best of our knowledge, no gene mutation related to NBCIE has been reported before in China. Mutation c.433C>T in NIPAL4 gene may well be the molecular basis of the pathogenesis of NBCIE in this case.

参考文献/References:

[1] 袁丞达, 王培光, 常小丽, 等. 非大疱性先天性鱼鳞病样红皮病1例[J]. 中国皮肤性病学杂志, 2006, 20(9): 560-561.
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[7] Wajid M, Kurban M, Shimomura Y,et al. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis[J]. Dermatology, 2010,220(1): 8-14.
[8] Alavi A, Shahshahani MM, Klotzle B,et al. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4[J]. J Dermatol,2012, 39(4): 375-381.
[9] Palamar M, Onay H, Ertam I,et al. Genotype and anterior segment phenotype in a cohort of Turkish patients with lamellar ichthyosis[J]. Ophthalmic Genet, 2015, 36(3):229-333.
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备注/Memo

备注/Memo:
[基金项目] 四川省科技厅科技支撑计划(2014SZ0234) [通讯作者] 汪盛,E-mail:wangsheng1892@sina.com
更新日期/Last Update: 2016-11-01