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Am J Ophthalmol. 2011 Jun;151(6):1087-1094.e45. doi: 10.1016/j.ajo.2010.11.025. Epub 2011 Feb 25.

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Author information

1
Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

Abstract

PURPOSE:

The purpose of this study was to evaluate the clinical usefulness of the array comparative genomic hybridization technique for the genetic analysis of patients with congenital ocular malformations.

DESIGN:

Laboratory investigation.

METHODS:

This was a multicenter study. Samples were collected from 37 patients with negative results for the routine diagnostic work-up, including normal karyotype and mutation analysis of appropriate genes. Samples from both parents also were tested. High-resolution genome-wide Agilent 244K oligoarray (Agilent Technologies) was applied. Confirmation of the results was obtained with independent techniques.

RESULTS:

Causal deletions were identified in 5 (13%) patients, affecting OTX2, FOXC1 and VPS13B (COH1), the downstream regulatory region of PAX6, and a 1,5 Megabases de novo deletion on chromosome 16.

CONCLUSIONS:

This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. Moreover, this screening technique broadens the phenotypic and mutational spectrum associated with genes known to cause congenital ocular malformation.

PMID:
21353197
DOI:
10.1016/j.ajo.2010.11.025
[Indexed for MEDLINE]

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