We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
- Authors
Takahashi, Kunihiko; Kogaki, Shigetoyo; Kurotobi, Shunji; Nasuno, Sayaka; Ohta, Makiko; Okabe, Hitomi; Wada, Kazuko; Sakai, Norio; Taniike, Masako; Ozono, Keiichi
- Abstract
<bold>Unlabelled: </bold>A male infant with clinical features of Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy is reported. He manifested severe heart failure and failure to thrive. Administration of propranolol and cibenzoline improved ventricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene.<bold>Conclusion: </bold>This is the first description of a patient with a Gln510Glu mutation in the protein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
- Subjects
HYPERTROPHIC cardiomyopathy; HEART failure; PROTEIN-tyrosine kinases; PROTEIN kinases; GENETIC mutation
- Publication
European Journal of Pediatrics, 2005, Vol 164, Issue 8, p497
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s00431-005-1679-y