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学科主题: 临床医学
题名:
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
作者: 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
发表日期: 2014-03-01
DOI: 10.1111/ced.12248
卷: 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
所属项目编号: 81071289 ; 81201220
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000331183400009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67808
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.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

Recommended Citation:
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.
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