A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
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.


CONCLUSIONS
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.
Takahashi
Kunihiko
K
Department of Developmental Medicine (Paediatrics), Osaka University Graduate School of Medicine, 2-2 Yamada-oka, 565-0871 Suita, Osaka, Japan.
Kogaki
Shigetoyo
S
Kurotobi
Shunji
S
Nasuno
Sayaka
S
Ohta
Makiko
M
Okabe
Hitomi
H
Wada
Kazuko
K
Sakai
Norio
N
Taniike
Masako
M
Ozono
Keiichi
K
D002312:Cardiomyopathy, Hypertrophic / Q000188:drug therapy / Q000235:genetics*; D002317:Cardiovascular Agents / Q000627:therapeutic use; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004359:Drug Therapy, Combination; D018698:Glutamic Acid; D005973:Glutamine; D006801:Humans; D007093:Imidazoles / Q000627:therapeutic use; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000188:drug therapy / Q000235:genetics*; D011433:Propranolol / Q000627:therapeutic use; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D016896:Treatment Outcome
D002317:Cardiovascular Agents; D007093:Imidazoles; D047908:Intracellular Signaling Peptides and Proteins; D005973:Glutamine; D018698:Glutamic Acid; D011433:Propranolol; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; C032151:cifenline