European Journal of Pediatrics

, 168:919

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

Authors

    • Division of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial HospitalChung Gung University College of Medicine
  • Ju-Li Lin
    • Division of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial HospitalChung Gung University College of Medicine
  • Min-Tzu Kuo
    • Division of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial HospitalChung Gung University College of Medicine
  • Pao-Chin Chiu
    • Department of PediatricsKaohsiung Veterans General Hospital
  • San-Ging Shu
    • Department of PediatricsTaichung Veterans General Hospital
  • Mei-Chyn Chao
    • Department of PediatricsKaoshiung Medical University Hospital
  • Yann-Jinn Lee
    • Departments of PediatricsMackay Memorial Hospital
  • Shuan-Pei Lin
    • Departments of PediatricsMackay Memorial Hospital
Original Paper

DOI: 10.1007/s00431-008-0858-z

Cite this article as:
Lo, F., Lin, J., Kuo, M. et al. Eur J Pediatr (2009) 168: 919. doi:10.1007/s00431-008-0858-z

Abstract

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.

Keywords

Noonan syndromeKRASMutation analysisCardio-facio-cutaneous syndromeCostello syndrome

Abbreviations

NS

Noonan syndrome

CFC

Cardio-facio-cutaneous syndrome

CS

Costello syndrome

Copyright information

© Springer-Verlag 2008