title: A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.
abstract: Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.
authors.affiliation: a University of Michigan Department of Obstetrics and Gynecology , Ann Arbor , Michigan , USA.
authors.forename: Anna W
authors.initials: AW
authors.lastname: Kneitel
authors.affiliation: a University of Michigan Department of Obstetrics and Gynecology , Ann Arbor , Michigan , USA.
authors.forename: Audrey
authors.initials: A
authors.lastname: Norby
authors.affiliation: b Genesys Regional Medical Center , Flint , Michigan , USA.
authors.forename: Ivana
authors.initials: I
authors.lastname: Vettraino
authors.affiliation: a University of Michigan Department of Obstetrics and Gynecology , Ann Arbor , Michigan , USA.
authors.forename: Marjorie C
authors.initials: MC
authors.lastname: Treadwell
mesh_terms: D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019908:Proto-Oncogene Proteins c-raf / Q000235:genetics*
chemical_list: D019908:Proto-Oncogene Proteins c-raf
keywords: Noonan syndrome; fetal diagnosis; mutation