Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. Issue 7 (8th April 2014)

• Record Type: Journal Article
• Authors: Titheradge, Hannah; Togneri, Fiona; McMullan, Dominic; Brueton, Louise; Lim, Derek; Williams, Denise
• Is Part Of: American journal of medical genetics. Volume 164:Issue 7(2014.)
• Page Start: 1695
• Page End: 1701
• Publication Date: 2014-04-08
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36540
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36540-sec-0001" sec-type="section"> <p>Axenfeld‐Rieger syndrome (ARS) is an autosomal dominant disorder with variable expressivity. It is characterized by dysgenesis of the anterior segment of the eye together with dental, cardiac, and umbilical anomalies. There is a high incidence of secondary high tension glaucoma. It is a genetically heterogeneous condition due to deletion or mutations of <italic>FOXC1</italic> (6p25) or <italic>PITX2</italic> (4q25). We report on four unrelated patients with overlapping microdeletions encompassing <italic>PITX2</italic> at 4q25. We compare the genotypes and phenotypes of these newly described ARS patients and discuss the involvement of contiguous genes. Patients 1, 2, and 3 had mild learning difficulties, not typically seen in patients with ARS. We implicate the adjacent neuronally expressed genes; <italic>NEUROG2</italic>, <italic>UGT8</italic>, <italic>NDST3</italic>, and <italic>PRSS12</italic> as potentially causal. Our findings support the use of microarray analysis in ARS patients for full prognostic information in infants presenting with ARS‐like phenotypes. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>