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IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科  > 期刊论文
学科主题: 临床医学
题名:
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
作者: Lin, Zhimiao3; Chen, Quan3; Shi, Lei1,2,4; Lee, Mingyang3; Giehl, Kathrin A.5; Tang, Zhanli6; Wang, Huijun3; Zhang, Jie3; Yin, Jinghua3; Wu, Lingshen3; Xiao, Ruo7; Liu, Xuanzhu7; Dai, Lanlan7; Zhu, Xuejun3; Li, Ruoyu3; Betz, Regina C.8; Zhang, Xue1,2,4; Yang, Yong3,9
刊名: AMERICAN JOURNAL OF HUMAN GENETICS
发表日期: 2012-11-02
DOI: 10.1016/j.ajhg.2012.08.029
卷: 91, 期:5, 页:906-911
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: MUTANT MICE ; GENE ; EXPRESSION ; PHENOTYPE ; FOLLICLE ; MULTIPLE ; KERATINS ; DEFECTS ; FAMILY ; MATRIX
英文摘要:

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130*]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.

语种: 英语
所属项目编号: 81071289 ; LRT1006
项目资助者: National Natural Science Foundation of China ; Program for Changjiang Scholars and Innovative Research Team in University ; German Research foundation
WOS记录号: WOS:000311011400013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67153
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: 1.Univ Munich, Dept Dermatol, D-80337 Munich, Germany
2.Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany
3.Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China
4.Chinese Acad Med Sci, Inst Basic Med Sci, McKusick Zhang Ctr Genet Med, Beijing 100005, Peoples R China
5.Chinese Acad Med Sci, Inst Basic Med Sci, State Key Lab Med Mol Biol, Beijing 100005, Peoples R China
6.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
7.Peking Union Med Coll, Beijing 100005, Peoples R China
8.Qingdao Univ, Coll Med, Affiliated Hosp, Dept Dermatol, Qingdao 266003, Peoples R China
9.Beijing Genom Inst Shenzhen, Dept Mendelian Disorder Res, Shenzhen 518083, Peoples R China

Recommended Citation:
Lin, Zhimiao,Chen, Quan,Shi, Lei,et al. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia[J]. AMERICAN JOURNAL OF HUMAN GENETICS,2012,91(5):906-911.
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