Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma
| Autor: | Joseph T. Shieh, Tanya Bardakjian, Laimutis Kucinskas, Adele Schneider, Craig Jackson, Lisa A. Schimmenti, Berta Warman, Gordana Raca |
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| Rok vydání: | 2011 |
| Předmět: |
Genetics
Comparative Genomic Hybridization congenital hereditary and neonatal diseases and abnormalities Candidate gene Coloboma Anophthalmia DNA Copy Number Variations PAX2 Transcription Factor Biology medicine.disease Microphthalmia Article eye diseases DNA sequencing genomic DNA Chromosome Duplication Gene duplication medicine Humans Eye Abnormalities sense organs Chromosome Deletion Gene Deletion Genetics (clinical) Comparative genomic hybridization |
| Zdroj: | Genetics in Medicine. 13:437-442 |
| ISSN: | 1098-3600 |
| DOI: | 10.1097/gim.0b013e318204cfd2 |
| Popis: | Purpose: 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. |
| Databáze: | OpenAIRE |
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