IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
Wang, H. J.1,2; Tang, Z. L.3; Lin, Z. M.1; Dai, L. L.4; Chen, Q.1; Yang, Y.1,2
刊名CLINICAL AND EXPERIMENTAL DERMATOLOGY
2014-03-01
DOI10.1111/ced.12248
39期:2页:158-161
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]FOLLICULARIS SPINULOSA DECALVANS
英文摘要

Mutations inMBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or withoutBRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X-linked form of Olmsted syndrome. We report a recurrent intronic mutation in MBTPS2(c.671-9T>G) in a Chinese patient with the typical triad of IFAP syndrome (i.e. ichthyosis, atrichia and photophobia), along with pachyonychia, palmoplantar and periorificial keratoderma, which were reminiscent of Olmsted syndrome. Interestingly, this mutation was previously reported in two cases of IFAP without keratoderma, which suggests clinical heterogeneicity of the same mutation in MBTPS2. The concomitance of Olmsted syndrome-like features in this patient with IFAP may challenge the existence of the X-linked form of Olmsted syndrome as an independent condition.

语种英语
WOS记录号WOS:000331183400009
项目编号81071289 ; 81201220
资助机构National Natural Science Foundation of China
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67808
专题北京大学第一临床医学院_皮肤性病科
作者单位1.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
2.Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China
3.Qingdao Univ, Coll Med, Affiliated Hosp, Dept Dermatol, Qingdao 266071, Peoples R China
4.BGI Shenzhen, Shenzhen, Peoples R China
推荐引用方式
GB/T 7714
Wang, H. J.,Tang, Z. L.,Lin, Z. M.,et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient[J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY,2014,39(2):158-161.
APA Wang, H. J.,Tang, Z. L.,Lin, Z. M.,Dai, L. L.,Chen, Q.,&Yang, Y..(2014).Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.CLINICAL AND EXPERIMENTAL DERMATOLOGY,39(2),158-161.
MLA Wang, H. J.,et al."Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient".CLINICAL AND EXPERIMENTAL DERMATOLOGY 39.2(2014):158-161.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Wang, H. J.]的文章
[Tang, Z. L.]的文章
[Lin, Z. M.]的文章
百度学术
百度学术中相似的文章
[Wang, H. J.]的文章
[Tang, Z. L.]的文章
[Lin, Z. M.]的文章
必应学术
必应学术中相似的文章
[Wang, H. J.]的文章
[Tang, Z. L.]的文章
[Lin, Z. M.]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。