NDLI: The Face of Noonan Syndrome: Does Phenotype Predict Genotype

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Allanson, Judith E. Bohring, Axel Dörr, Helmuth-Guenther Dufke, Andreas Gillessen-Kaesbach, Gabrielle Horn, Denise König, Rainer Kratz, Christian P. Kutsche, Kerstin Pauli, Silke Raskin, Salmo Rauch, Anita Turner, Anne Wieczorek, Dagmar Zenker, Martin
Description	Country affiliation: Canada Author Affiliation: Allanson JE ( Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.)
Abstract	The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders of the Ras/MAPK pathway. Thirty-two of this cohort have PTPN11 mutations, 21 SOS1 mutations, 11 RAF1 mutations, and 17 KRAS mutations. The facial appearance of each person was judged to be typical of Noonan syndrome or atypical. In each gene category both typical and unusual faces were found. We determined that some individuals with mutations in the most commonly affected gene, PTPN11, which is correlated with the cardinal physical features, may have a quite atypical face. Conversely, some individuals with KRAS mutations, which may be associated with a less characteristic intellectual phenotype and a resemblance to Costello and cardio-facio-cutaneous syndromes, can have a very typical face. Thus, the facial phenotype, alone, is insufficient to predict the genotype, but certain facial features may facilitate an educated guess in some cases.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33518
Journal	American Journal of Medical Genetics Part A
Issue Number	8
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Abnormalities, Multiple Mutation Genetics Noonan Syndrome Protein Tyrosine Phosphatase, Non-receptor Type 11 Proto-oncogene Proteins C-raf Proto-oncogene Proteins Sos1 Protein Ras Proteins Adolescent Child, Preschool Genotype Infant Diagnosis Phenotype Proto-oncogene Proteins P21(ras) Syndrome Research Support, N.i.h., Intramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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The Face of Noonan Syndrome: Does Phenotype Predict Genotype

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The Face of Noonan Syndrome: Does Phenotype Predict Genotype