Aortic root dilatation is a rare complication of Noonan syndrome.
Molecular analysis of the gene encoding the protein tyrosine phospatase, nonreceptor type 11 (PTPN11), identified a single base change at nucleotide 228 in an individual manifesting Noonan syndrome with aortic root widening and dysplastic aortic and mitral valves. This missense mutation changes glutamate to aspartate at position 76 of the protein (E76D or Glu76Asp), which likely disrupts intramolecular hydrogen bonding of this protein. There are few reports of aortic root dilatation in Noonan syndrome, and to our knowledge this is the first case with a confirmed PTPN11 mutation.
Power
Patricia D
PD
Women's & Children's Health Centre of British Columbia and Department of Pathology, Medical Genetics University of British Columbia, Vancouver, BC, Canada.
Lewin
Mark B
MB
Hannibal
Mark C
MC
Glass
Ian A
IA
D001018:Aortic Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D001022:Aortic Valve Insufficiency / Q000209:etiology; D002648:Child; D004108:Dilatation, Pathologic / Q000209:etiology; D004452:Echocardiography; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008945:Mitral Valve Prolapse / Q000209:etiology; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D017422:Sequence Analysis, DNA
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases