دورية أكاديمية
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
| العنوان: | A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. |
|---|---|
| المؤلفون: | Cheng F; Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin, China., Song W, Kang Y, Yu S, Yuan H |
| المصدر: | Molecular vision [Mol Vis] 2011 Feb 10; Vol. 17, pp. 448-55. Date of Electronic Publication: 2011 Feb 10. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Atlanta Ga : Molecular Vision, 1995- |
| مواضيع طبية MeSH: | Gene Deletion*, Aniridia/*genetics , Eye Abnormalities/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Aniridia/ethnology ; China ; Chromosomes, Human, Pair 11/genetics ; Doublecortin Domain Proteins ; Exons ; Eye Abnormalities/ethnology ; Family Health ; Female ; Humans ; Male ; Mutation ; PAX6 Transcription Factor ; Pedigree ; Phenotype ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA |
| مستخلص: | Purpose: The paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals. Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs. Known genetic alterations causing haplo-insufficiency of PAX6 include nonsense mutations, frame-shift mutations, splicing errors, or genomic deletions. The purpose of this study was to identify genetic defects as the underlying cause of familial aniridia in a large Chinese family. Methods: All exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. 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 in the proband and to test five other family members. Results: There were no detectable pathogenic mutations in the exons of PAX6 in the proband. The aCGH analysis showed two copies of PAX6 but revealed a 566 kb hemizygous deletion of chromosome 11p13, including four annotated genes doublecortin domain containing 1 (DCDC1), DnaJ homolog subfamily C member 24 (DNAJC24), IMP1 inner mitochondrial membrane(IMMP1L), andelongation factor protein 4 (ELP4) downstream of PAX6. Quantitative real-time PCR verified the deletion in the proband and further identified the deletion in a blind fashion in four affected family members but not in the one with a normal phenotype. Conclusions: The 566 kb hemizygous deletion of chromosome 11p13 downstream of PAX6 should be the cause of the familial aniridia in this Chinese family, although two copies of PAX6 are intact. aCGH evaluation should be applied if there is a negative result for the mutation detection of PAX6 in patients with aniridia. |
| References: | Hum Mol Genet. 1995 Mar;4(3):415-22. (PMID: 7795596) Am J Hum Genet. 1999 Sep;65(3):656-63. (PMID: 10441571) Ophthalmic Paediatr Genet. 1984 Apr;4(1):29-32. (PMID: 6544390) Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13755-9. (PMID: 11087823) Genes Brain Behav. 2010 Nov;9(8):1004-12. (PMID: 20825490) Mol Biol Cell. 2005 Jun;16(6):2926-33. (PMID: 15814844) Am J Hum Genet. 2009 Feb;84(2):148-61. (PMID: 19166990) Mol Vis. 2007 Jul 23;13:1245-50. (PMID: 17679951) Hum Genet. 2008 May;123(4):371-8. (PMID: 18322702) J Clin Neurosci. 2009 Dec;16(12):1610-4. (PMID: 19793656) Invest Ophthalmol Vis Sci. 1998 Dec;39(13):2524-8. (PMID: 9856761) Genes Dev. 1999 May 15;13(10):1263-75. (PMID: 10346815) Am J Hum Genet. 1994 May;54(5):801-11. (PMID: 7909985) Am J Hum Genet. 2002 Nov;71(5):1138-49. (PMID: 12386836) J Hum Genet. 2003;48(7):393-6. (PMID: 12820024) Dev Biol. 2006 Nov 15;299(2):563-81. (PMID: 17014839) Genome Res. 2009 Sep;19(9):1682-90. (PMID: 19592680) Genet Test Mol Biomarkers. 2009 Dec;13(6):751-60. (PMID: 20001581) Eur J Hum Genet. 2009 Sep;17(9):1171-81. (PMID: 19172991) Clin Genet. 2010 May;77(5):409-20. (PMID: 20132240) Mech Dev. 2002 Mar;112(1-2):89-100. (PMID: 11850181) Mol Cell Biol. 2004 Nov;24(21):9487-97. (PMID: 15485916) Mol Vis. 2007 Aug 30;13:1555-61. (PMID: 17893655) Nat Genet. 1994 Feb;6(2):168-73. (PMID: 8162071) Am J Clin Pathol. 2009 Sep;132(3):349-60. (PMID: 19687311) |
| المشرفين على المادة: | 0 (DCDC1 protein, human) 0 (Doublecortin Domain Proteins) 0 (Eye Proteins) 0 (Homeodomain Proteins) 0 (PAX6 Transcription Factor) 0 (PAX6 protein, human) 0 (Paired Box Transcription Factors) 0 (Repressor Proteins) |
| تواريخ الأحداث: | Date Created: 20110216 Date Completed: 20110526 Latest Revision: 20211203 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC3038207 |
| PMID: | 21321669 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1090-0535 |
|---|