Cargando…
A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma
PURPOSE: The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a la...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859656/ https://www.ncbi.nlm.nih.gov/pubmed/24349436 http://dx.doi.org/10.1371/journal.pone.0083073 |
_version_ | 1782295449155141632 |
---|---|
author | Guo, Hong Dai, Limeng Huang, Yanming Liao, Qiong Bai, Yun |
author_facet | Guo, Hong Dai, Limeng Huang, Yanming Liao, Qiong Bai, Yun |
author_sort | Guo, Hong |
collection | PubMed |
description | PURPOSE: The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a large Chinese family. METHODS: After linkage analysis was carried out in this family, all exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Then the genome of the proband was evaluated by a microarray-based comparative genomic hybridization (aCGH). Quantitative real-time PCR was applied to verify the abnormal aCGH findings. RESULTS: All patients presented bilateral partial coloboma of iris, severe congenital nystagmus, hyperpresbyopia and congenital posterior polar cataracts. Two-point linkage analysis in the autosomal dominant family showed loss of heterozygosity at the D11S914 locus. There was no pathogenic mutation in the exons of PAX6. The aCGH analysis revealed a 681 kb heterozygous deletion on chromosome 11p13. Quantitative real-time PCR verified the deletion in the patients and further confirmed this deletion cosegregation with the ocular coloboma phenotype in the family. CONCLUSIONS: The 681 kb large deletion of chromosome 11p13 downstream of PAX6 is the genetic cause of the familial ocular coloboma in this large Chinese family. aCGH should be applied if there is a negative result for the mutation detection of PAX6 in patients with ocular coloboma. |
format | Online Article Text |
id | pubmed-3859656 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-38596562013-12-13 A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma Guo, Hong Dai, Limeng Huang, Yanming Liao, Qiong Bai, Yun PLoS One Research Article PURPOSE: The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a large Chinese family. METHODS: After linkage analysis was carried out in this family, all exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Then the genome of the proband was evaluated by a microarray-based comparative genomic hybridization (aCGH). Quantitative real-time PCR was applied to verify the abnormal aCGH findings. RESULTS: All patients presented bilateral partial coloboma of iris, severe congenital nystagmus, hyperpresbyopia and congenital posterior polar cataracts. Two-point linkage analysis in the autosomal dominant family showed loss of heterozygosity at the D11S914 locus. There was no pathogenic mutation in the exons of PAX6. The aCGH analysis revealed a 681 kb heterozygous deletion on chromosome 11p13. Quantitative real-time PCR verified the deletion in the patients and further confirmed this deletion cosegregation with the ocular coloboma phenotype in the family. CONCLUSIONS: The 681 kb large deletion of chromosome 11p13 downstream of PAX6 is the genetic cause of the familial ocular coloboma in this large Chinese family. aCGH should be applied if there is a negative result for the mutation detection of PAX6 in patients with ocular coloboma. Public Library of Science 2013-12-11 /pmc/articles/PMC3859656/ /pubmed/24349436 http://dx.doi.org/10.1371/journal.pone.0083073 Text en © 2013 Guo et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Guo, Hong Dai, Limeng Huang, Yanming Liao, Qiong Bai, Yun A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title | A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title_full | A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title_fullStr | A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title_full_unstemmed | A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title_short | A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma |
title_sort | large novel deletion downstream of pax6 gene in a chinese family with ocular coloboma |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859656/ https://www.ncbi.nlm.nih.gov/pubmed/24349436 http://dx.doi.org/10.1371/journal.pone.0083073 |
work_keys_str_mv | AT guohong alargenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT dailimeng alargenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT huangyanming alargenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT liaoqiong alargenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT baiyun alargenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT guohong largenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT dailimeng largenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT huangyanming largenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT liaoqiong largenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma AT baiyun largenoveldeletiondownstreamofpax6geneinachinesefamilywithocularcoloboma |