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Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation
Author(s) -
Guerin Andrea,
So Joyce,
Mireskandari Kamiar,
JougehDoust Soghra,
Chisholm Caitlin,
Klatt Regan,
Richer Julie
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36841
Subject(s) - noonan syndrome , ptpn11 , medicine , mutation , pathology , genetics , biology , gene , kras
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. © 2014 Wiley Periodicals, Inc.