title: Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
abstract: OBJECTIVE
  The goal of our study was to determine whether genomic copy number abnormalities (deletions and duplications) affecting genes involved in eye development contributed to the etiology of anophthalmia, microphthalmia, and coloboma.
  
  
  METHODS
  The affected individuals were evaluated for the presence of deletions and duplications in genomic DNA by a very high-resolution array comparative genomic hybridization.
  
  
  RESULTS
  Array analysis of 32 patients detected one case with a deletion encompassing the renal-coloboma syndrome associated gene PAX2. Nonpolymorphic copy number changes were also observed at several candidate chromosomal regions, including 6p12.3, 8q23.1q23.2, 13q31.3, 15q11.2q13.1, 16p13.13, and 20q13.13.
  
  
  CONCLUSIONS
  This study identified the first patient with the typical phenotype of the renal-coloboma syndrome caused by a submicroscopic deletion of the coding region of the PAX2 gene. The finding suggests that PAX2 deletion testing should be performed in addition to gene sequencing as a part of molecular evaluation for the renal-coloboma syndrome. Array comparative genomic hybridization testing of 32 affected individuals showed that genomic deletions and duplications are not a common cause of nonsyndromic anophthalmia, microphthalmia, or coloboma but undoubtedly contribute to the etiology of these eye anomalies. Therefore, array comparative genomic hybridization testing represents an important and valuable addition to candidate gene sequencing in research and diagnostics of ocular birth defects.
authors.affiliation: UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA. racago@slh.wisc.edu
authors.forename: Gordana
authors.initials: G
authors.lastname: Raca
authors.forename: Craig A
authors.initials: CA
authors.lastname: Jackson
authors.forename: Laimutis
authors.initials: L
authors.lastname: Kucinskas
authors.forename: Berta
authors.initials: B
authors.lastname: Warman
authors.forename: Joseph T C
authors.initials: JT
authors.lastname: Shieh
authors.forename: Adele
authors.initials: A
authors.lastname: Schneider
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Bardakjian
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
mesh_terms: D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D051762:PAX2 Transcription Factor / Q000235:genetics
chemical_list: D051762:PAX2 Transcription Factor