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 duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient
Xu, F.1,2; Wang, H. J.3,4; Lin, Z. M.3; Yu, B.1,2
刊名CLINICAL AND EXPERIMENTAL DERMATOLOGY
2015-06-01
DOI10.1111/ced.12571
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
WOS记录号WOS:000354479300012
资助机构PUMC Youth Fund ; Fundamental Research Funds for the Central Universities
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55763
专题北京大学第一临床医学院_皮肤性病科
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
推荐引用方式
GB/T 7714
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.
APA Xu, F.,Wang, H. J.,Lin, Z. M.,&Yu, B..(2015).Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.CLINICAL AND EXPERIMENTAL DERMATOLOGY,40(4),404-407.
MLA Xu, F.,et al."Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient".CLINICAL AND EXPERIMENTAL DERMATOLOGY 40.4(2015):404-407.
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