Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

• 影响指数: 2.578
• 发表时间: Feb 2015
• 来源期刊: Am J Med Genet A
• DOI: 10.1002/ajmg.a.36841
• PMID: 25425531
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Guerin A,So J,Mireskandari K,Jougeh-Doust S,Chisholm C,Klatt R,Richer J

关键词: Axenfeld anomaly; Noonan syndrome; PTPN11; anterior chamber anomalies

Mesh: Anterior Eye Segment / abnormalities; Child; Eye Abnormalities / diagnosis genetics pathology; Eye Diseases, Hereditary; Female; Glaucoma / congenital; Humans; Mutation; Noonan Syndrome / diagnosis genetics; Phenotype; Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics

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.