Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature

被引：0
作者：
Fu-Sung Lo
Ju-Li Lin
Min-Tzu Kuo
Pao-Chin Chiu
San-Ging Shu
Mei-Chyn Chao
Yann-Jinn Lee
Shuan-Pei Lin
机构：
[1] Chung Gung University College of Medicine,Division of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial Hospital
[2] Kaohsiung Veterans General Hospital,Department of Pediatrics
[3] Taichung Veterans General Hospital,Department of Pediatrics
[4] Kaoshiung Medical University Hospital,Department of Pediatrics
[5] Mackay Memorial Hospital,Departments of Pediatrics
来源：
European Journal of Pediatrics | 2009年 / 168卷
关键词：
Noonan syndrome; Mutation analysis; Cardio-facio-cutaneous syndrome; Costello syndrome;
D O I：
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摘要：
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the KRAS gene in 57 unrelated ethnic Chinese children suffering from Noonan syndrome without PTPN11 gene mutation in Taiwan. This work only identified two patients with different missense mutations (c.40G>A, p.Val14Ile; c.108A>G, p.Ile36Met) in the exon 1 of KRAS gene. This study also analyzed the characteristics of 34 reported cases involving KRAS mutations in the literature. All these patients presented with variable phenotypes, including Noonan syndrome (n = 19), cardio-facio-cutaneous syndrome (n = 7), Costello syndrome (n = 6), and Noonan/cardio-facio-cutaneous syndrome (n = 1). The phenotype of KRAS mutations was generally severe, including short stature, mental retardation, heart defects, etc. In conclusion, this investigation demonstrates that KRAS mutations are the cause in a minority of cases of Chinese patients with Noonan syndrome in Taiwan.
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[11]  
Legius E(2007)Germline Nat Genet 39 1013-1017
[12]  
Fryssira H(2007) and BRAF mutations in cardio-facio-cutaneous syndrome Nat Genet 39 70-74
[13]  
Leventopoulos G(2006)Gain-of-function Science 311 1287-1290
[14]  
Psoni S(2006) mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy Nat Genet 38 331-336
[15]  
Hung CS(2007)Germline gain-of-function mutations in J Med Genet 44 e84-e89
[16]  
Lin JL(2001) cause Noonan syndrome Nat Genet 29 465-468
[17]  
Lee YJ(2004)Germline gain-of-function mutations in J Pediatr 144 368-374
[18]  
Kratz CP(2007) cause Noonan syndrome J Med Genet 44 131-135
[19]  
Niemeyer CM(undefined)Germline mutations in genes within the MAPK pathway cause cardiofacio-cutaneous syndrome undefined undefined undefined-undefined
[20]  
Zenker M(undefined)Germline undefined undefined undefined-undefined
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