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学科主题: 临床医学
题名:
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient
作者: Xu, F.1,2; Wang, H. J.3,4; Lin, Z. M.3; Yu, B.1,2
刊名: CLINICAL AND EXPERIMENTAL DERMATOLOGY
发表日期: 2015-06-01
DOI: 10.1111/ced.12571
卷: 40, 期:4, 页:404-407
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]: GENOTYPE-PHENOTYPE CORRELATION ; DYSREGULATION ; PATHWAY ; NOONAN
英文摘要:

Costello syndrome (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, intellectual impairment, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and hypotrichosis. Using Sanger sequencing for the case-parents trio, we detected a de novo insertion mutation (c.187_207dup) in HRAS, which was predicted to result in duplication of amino acids 63-69 (p.E63_D69dup). This mutation was recently described in a mild case of CS, with hyperactivation of HRAS and disrupted capacity to respond to incoming signals. Our study delineates the detailed clinical features associated with this noncanonical HRAS mutation and further expands the phenotypic spectrum of CS.

语种: 英语
项目资助者: PUMC Youth Fund ; Fundamental Research Funds for the Central Universities
WOS记录号: WOS:000354479300012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55763
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 Tsinghua Ctr Life Sci, Beijing, Peoples R China
2.Chinese Acad Med Sci, Natl Ctr Cardiovasc Dis, Fuwai Hosp, State Key Lab Cardiovasc Dis, Beijing 100037, Peoples R China
3.Peking Union Med Coll, Beijing 100037, Peoples R China
4.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100871, Peoples R China

Recommended Citation:
Xu, F.,Wang, H. J.,Lin, Z. M.,et al. Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient[J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY,2015,40(4):404-407.
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