This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Noonan syndrome (NS) is an autosomal dominant disorder affecting an estimated 1/1000-2,500 people. There is considerable variability in expression. Affected patients have typical facial features and may have congenital heart disease, motor delay, learning problems or mental retardation, hearing loss, visual problems, chest deformity, scoliosis, undescended testes, pubertal delay, short stature, or a bleeding disorder. Early studies found that between 45% and 50% of individuals with Noonan syndrome have identifiable changes (mutations) in the PTPN11 gene. Preliminary studies show that familial cases of NS and patients with pulmonary valve stenosis are more likely to have a PTPN11 mutation. The purpose of our research is to identify what percentage of patients with Noonan syndrome, patients with a Noonan-like syndrome, or patients with isolated pulmonary valve disease or hypertrophic cardiomyopathy have a mutation in the PTPN11 gene. The study involves collecting DNA samples for PTPN11 testing, completing physical exams, reviewing past medical histories and compiling family histories of all participants. The test results and medical information obtained from participants in the study will be used to identify relationships between PTPN11 gene mutations and the different medical conditions seen in Noonan syndrome and related disorders. These findings will be used to improve diagnosis, treatment and counseling. Additionally, Patients with NS who do not have a PTPN11 gene mutation will serve as a study cohort that will be used in the future to discover other genes associated with NS and to aid in our understanding of the genetics of cardiovascular disease.
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