A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma
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{"title"=>"A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma", "type"=>"journal", "authors"=>[{"first_name"=>"Hong", "last_name"=>"Guo", "scopus_author_id"=>"56464496700"}, {"first_name"=>"Limeng", "last_name"=>"Dai", "scopus_author_id"=>"42261356500"}, {"first_name"=>"Yanming", "last_name"=>"Huang", "scopus_author_id"=>"36945641100"}, {"first_name"=>"Qiong", "last_name"=>"Liao", "scopus_author_id"=>"36908490200"}, {"first_name"=>"Yun", "last_name"=>"Bai", "scopus_author_id"=>"36127318700"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"372133161", "doi"=>"10.1371/journal.pone.0083073", "pmid"=>"24349436", "issn"=>"19326203", "scopus"=>"2-s2.0-84892580885", "sgr"=>"84892580885"}, "id"=>"d3e903a5-24eb-392a-b87f-a6ea8f41d5ca", "abstract"=>"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.\\n\\nMETHODS: 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.\\n\\nRESULTS: 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.\\n\\nCONCLUSIONS: 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.", "link"=>"http://www.mendeley.com/research/large-novel-deletion-downstream-pax6-gene-chinese-family-ocular-coloboma", "reader_count"=>7, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Researcher"=>1, "Student > Doctoral Student"=>1, "Student > Master"=>3, "Student > Bachelor"=>1}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Researcher"=>1, "Student > Doctoral Student"=>1, "Student > Master"=>3, "Student > Bachelor"=>1}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>2, "Agricultural and Biological Sciences"=>3, "Medicine and Dentistry"=>1, "Veterinary Science and Veterinary Medicine"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>3}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>2}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>1}}, "reader_count_by_country"=>{"Germany"=>1}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1311706"], "description"=>"<p>Histogram indicated the relative quantity between <i>ELP4</i> and <i>PAX6</i> compared to <i>ALB</i> values in external controls, familial controls and familial patients.</p>", "links"=>[], "tags"=>["genomic", "deletion", "downstream", "quantitative", "Real-time"], "article_id"=>875141, "categories"=>["Biological Sciences"], "users"=>["Hong Guo", "Limeng Dai", "Yanming Huang", "Qiong Liao", "Yun Bai"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0083073.g004", "stats"=>{"downloads"=>4, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Confirming_the_genomic_deletion_downstream_of_PAX6_gene_by_quantitative_real_time_PCR_/875141", "title"=>"Confirming the genomic deletion downstream of <i>PAX6</i> gene by quantitative real-time PCR.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-11 04:00:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1311704"], "description"=>"<p><b>A</b>-<b>B</b>: Photograph of anterior segment of the proband with partial coloboma of iris and congenital posterior polar cataract. <b>C</b>-<b>D</b>: No obvious abnormalities were found in the fundus images of the proband.</p>", "links"=>[], "tags"=>["findings"], "article_id"=>875139, "categories"=>["Biological Sciences"], "users"=>["Hong Guo", "Limeng Dai", "Yanming Huang", "Qiong Liao", "Yun Bai"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0083073.g002", "stats"=>{"downloads"=>0, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Ophthalmological_findings_in_the_proband_/875139", "title"=>"Ophthalmological findings in the proband.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-11 04:00:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1311705"], "description"=>"<p>This deletion harbors five annotated genes, <i>DCDC5, DCDC1, DNAJC24, IMMP1L</i>, and <i>ELP4</i>.</p>", "links"=>[], "tags"=>["681", "kb", "genomic", "deletion", "chromosome"], "article_id"=>875140, "categories"=>["Biological Sciences"], "users"=>["Hong Guo", "Limeng Dai", "Yanming Huang", "Qiong Liao", "Yun Bai"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0083073.g003", "stats"=>{"downloads"=>1, "page_views"=>22, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_The_681_kb_genomic_deletion_of_chromosome_11p13_/875140", "title"=>"The 681 kb genomic deletion of chromosome 11p13.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-11 04:00:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/1311703"], "description"=>"<p>Squares and circles indicated males and females respectively. The symbols in black represent the affected members. The arrow indicates the proband. The square with a line indicated a deceased individual. Haplotype analysis showed loss of heterozygous segregation with D11S914 and D11S995. All markers were listed in descending order from the centromere on chromosome 11p.</p>", "links"=>[], "tags"=>["haplotype"], "article_id"=>875138, "categories"=>["Biological Sciences"], "users"=>["Hong Guo", "Limeng Dai", "Yanming Huang", "Qiong Liao", "Yun Bai"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0083073.g001", "stats"=>{"downloads"=>1, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Pedigree_and_haplotype_analysis_of_the_family_in_this_study_/875138", "title"=>"Pedigree and haplotype analysis of the family in this study.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-12-11 04:00:14"}

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Relative Metric

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