title: Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
abstract: Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment anomalies have been described in 57% of PTPN11 positive patients, with the most common findings being corneal changes and in particular, prominent corneal nerves and cataracts. We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non-immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syndrome. While a pathogenic mutation in PTPN11 was confirmed, prior testing for the two common genes associated with Axenfeld-Rieger syndrome, PITX2, and FOXC1 was negative. This finding expands the spectrum of anterior chamber anomalies seen in Noonan syndrome and perhaps suggests a common neural crest related mechanism that plays a critical role in the development of the eye and other organs.
authors.affiliation: The Hospital for Sick Children, Department of Pediatrics, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada; Kingston General Hospital, Department of Pediatrics, Division of Medical Genetics, Kingston, Ontario, Canada.
authors.forename: Andrea
authors.initials: A
authors.lastname: Guerin
authors.forename: Joyce
authors.initials: J
authors.lastname: So
authors.forename: Kamiar
authors.initials: K
authors.lastname: Mireskandari
authors.forename: Soghra
authors.initials: S
authors.lastname: Jougeh-Doust
authors.forename: Caitlin
authors.initials: C
authors.lastname: Chisholm
authors.forename: Regan
authors.initials: R
authors.lastname: Klatt
authors.forename: Julie
authors.initials: J
authors.lastname: Richer
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D015785:Eye Diseases, Hereditary; D005260:Female; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: Axenfeld anomaly; Noonan syndrome; PTPN11; anterior chamber anomalies