PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
نویسندگان
چکیده
منابع مشابه
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mu...
متن کاملCorrelation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...
متن کاملLETTER TO JMG Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...
متن کاملThe spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
OBJECTIVE Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysf...
متن کاملClinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.
Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rates of coagulopathy. The aim of this study was to evaluate phenotypic characteristics, PTPN11 gene mutations, a...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2002
ISSN: 0002-9297
DOI: 10.1086/340847