Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

被引：9

作者：

McDonell, Laura M. ^{[1
]}

Leung, Gordon Ka-Chun ^{[2
]}

Daoud, Hussein ^{[3
]}

Ip, Janice ^{[4
]}

Chim, Stella ^{[2
]}

Luk, Ho Ming ^{[5
]}

Lan, Lawrence ^{[6
]}

Boycott, Kym M. ^{[1
]}

Chung, Brian Hon-Yin ^{[2
]}

机构：

[1] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

[2] Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[3] Childrens Hosp Eastern Ontario, Dept Genet, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada

[4] Queen Mary Hosp, Dept Radiol, Hong Kong, Peoples R China

[5] Clin Genet Serv, Dept Hlth, Hong Kong, Peoples R China

[6] Univ Hong Kong, Dept Surg, Div Paediat Surg, Hong Kong, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 11期

基金：

加拿大健康研究院;

关键词：

diaphragm/diagnostic imaging; genes; Ras; hypertension; renovascular; lipomatosis/genetics; mutation; missense; neurocutaneous syndromes/diagnosis; proto-oncogene; renal-artery obstruction; RENAL-ARTERY ENTRAPMENT; OCULOECTODERMAL SYNDROME; CANCER;

D O I：

10.1002/ajmg.a.40349

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2523 / 2527

页数：5

共 28 条

[1] Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis [J].

Ardinger, Holly H. ;

Horii, Kimberly A. ;

Begleiter, Michael L. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (24) :2959-2962

[2] Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis [J].

Bennett, James T. ;

Tan, Tiong Yang ;

Alcantara, Diana ;

Tetrault, Martine ;

Timms, Andrew E. ;

Jensen, Dana ;

Collins, Sarah ;

Nowaczyk, Malgorzata J. M. ;

Lindhurst, Marjorie J. ;

Christensen, Katherine M. ;

Braddock, Stephen R. ;

Brandling-Bennett, Heather ;

Hennekam, Raoul C. M. ;

Chung, Brian ;

Lehman, Anna ;

Su, John ;

Ng, SuYuen ;

Amor, David J. ;

Majewski, Jacek ;

Biesecker, Les G. ;

Boycott, Kym M. ;

Dobyns, William B. ;

O'Driscoll, Mark ;

Moog, Ute ;

McDonell, Laura M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (03) :579-587

[3] Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis [J].

Boppudi, S. ;

Boegershausen, N. ;

Hove, H. B. ;

Percin, E. F. ;

Aslan, D. ;

Dvorsky, R. ;

Kayhan, G. ;

Li, Y. ;

Cursiefen, C. ;

Tantcheva-Poor, I. ;

Toft, P. B. ;

Bartsch, O. ;

Lissewski, C. ;

Wieland, I. ;

Jakubiczka, S. ;

Wollnik, B. ;

Ahmadian, M. R. ;

Heindl, L. M. ;

Zenker, M. .

CLINICAL GENETICS, 2016, 90 (04) :334-342

[4] Bilateral renal artery entrapment by diaphragmatic crura:: A rare cause of renovascular hypertension with a specific management [J].

Deglise, Sebastien ;

Corpataux, Jean-Marc ;

Haller, Claude ;

Binaghi, Stefano ;

Meuwly, Jean-Yves ;

Qanadli, Salah D. .

JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY, 2007, 31 (03) :481-484

[5] COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer [J].

Forbes, Simon A. ;

Tang, Gurpreet ;

Bindal, Nidhi ;

Bamford, Sally ;

Dawson, Elisabeth ;

Cole, Charlotte ;

Kok, Chai Yin ;

Jia, Mingming ;

Ewing, Rebecca ;

Menzies, Andrew ;

Teague, Jon W. ;

Stratton, Michael R. ;

Futreal, P. Andrew .

NUCLEIC ACIDS RESEARCH, 2010, 38 :D652-D657

[6] Cardiovascular disease in neurofibromatosis 1: Report of the NF1 cardiovascular task force [J].

Friedman, JM ;

Arbiser, J ;

Epstein, JA ;

Gutmann, DH ;

Huot, SJ ;

Lin, AE ;

McManus, B ;

Korf, BR .

GENETICS IN MEDICINE, 2002, 4 (03) :105-111

[7] Compression of the left renal artery and celiac trunk by diaphragmatic crura [J].

Gaebel, Gabor ;

Hinterseher, Irene ;

Saeger, Hans Detlev ;

Bergert, Hendrik .

JOURNAL OF VASCULAR SURGERY, 2009, 50 (04) :910-914

[8] Mosaic RASopathies [J].

Hafner, Christian ;

Groesser, Leopold .

CELL CYCLE, 2013, 12 (01) :43-50

[9]

HALL JG, 1988, AM J HUM GENET, V43, P355

[10]

HAPPLE R, 1993, HAUTARZT, V44, P19

← 1 2 3 →