J Korean Soc Pediatr Endocrinol Search


Ann Pediatr Endocrinol Metab > Volume 13(1); 2008 > Article
Familial Noonan Syndrome Confirmed by PTPN11 Gene Test.
You Suk Kim, Seung Tae Lee, Chang Seok Ki, Mi Jung Park
1Department of Pediatrics, Inje University College of Medicine, Seoul, Korea. PMJ@paik.ac.kr
2Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.
Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all Korean patients with Noonan syndrome have been reported as sporadic cases thus far. In approximately 50-60% of cases, the disease is caused by mutation in the PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) gene on chromosome 12, encoding SHP-2 (Src homology protein-tyrosine phosphatase-2). We have experienced a boy and his father with typical clinical features of Noonan syndrome in whom Asn58Asp mutation of the PTPN11 gene were identified. To the best of our knowledge, this is the first report of genetically confirmed familial Noonan syndrome in Korea.
Keywords: Noonan syndrome;PTPN11 gene
Share :
Facebook Twitter Linked In Google+
METRICS Graph View
  • 3,512 View
  • 29 Download
Related articles in APEM

A Familial Case of Kallmann Syndrome due to KAL1 Gene Complete Deletion.2011 April;16(1)


Browse all articles >

Editorial Office
501-107, 30 Seocho-daero 74-gil, Seocho-gu, Seoul 06622, Republic of Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: editor@e-apem.org                

Copyright © 2024 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next