title: Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
abstract: We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 weeks and was noted to have dysmorphic features, edema, hepatosplenomegaly, leukocytosis, thrombocytopenia, and respiratory distress following birth. An echocardiogram revealed hypertrophic cardiomyopathy with left ventricular outflow tract obstruction. The infant's cardiac lesion rapidly progressed, and he was discharged home for palliative care. Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly. The patient's cardiac findings and features were not typical for those individuals previously reported with this SHOC2 mutation and thus expand the clinical phenotype.
authors.affiliation: Division of Newborn Medicine, Floating Hospital for Children at Tufts Medical Center, Boston, Massachusetts 02111, USA. rhoban@tuftsmedicalcenter.org
authors.forename: Rebecca
authors.initials: R
authors.lastname: Hoban
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Laurie
authors.initials: L
authors.lastname: Demmer
authors.forename: Reena
authors.initials: R
authors.lastname: Jethva
authors.forename: Barbara
authors.initials: B
authors.lastname: Shephard
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D005316:Fetal Distress / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C112913:SHOC2 protein, human