Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

Molecular Vision

Volumn 17, Issue , 2011, Pages 1305-1309

  Aggarwal, Shagun ^a   Jinda, Worapoj ^b   Limwongse, Chanin ^b   Atchaneeyasakul, La Ongsri ^b   Phadke, Shubha R ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b MAHIDOL UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

3' UNTRANSLATED REGION; ADULT; ANIRIDIA; ARTICLE; AUTOSOMAL DOMINANT ANIRIDIA; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHORIORETINAL DEGENERATION; CHORIORETINOPATHY; DNA SEQUENCE; FAMILY STUDY; GENE; GENE MUTATION; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; PAIRED BOX 6 GENE; PREDICTION; PRIORITY JOURNAL; RETINA DEGENERATION; RNA SPLICING; RNA TRANSLATION; STOP CODON;

ADOLESCENT; ANIRIDIA; CHOROID DISEASES; EYE PROTEINS; GENES, DOMINANT; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 79957467026     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992; 2:232-9. [PMID: 1345175]
2. Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. PAX6 mutations in aniridia. Hum Mol Genet 1993; 2:915-20. [PMID: 8364574]
3. Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 1999; 8:165-72. [PMID: 9931324]
4. Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994; 6:168-73. [PMID: 8162071]
5. Tzoulaki I, White IM, Hanson IM. PAX6 mutations: genotype phenotype correlations. BMC Genet 2005; 6:27. [PMID: 15918896]
6. The PAX6 Allelic Variant Database http://pax6.hgu.mrc.ac.uk/.
7. Atchaneeyasakul LO, Trinavarat A, Dulayajinda D, Kumpornsin K, Thongnoppakhun W, Yenchitsomanus PT, Limwongse C. Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. Ophthalmic Genet 2006; 27:21-7. [PMID: 16543198]
8. van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet 2002; 11:1161-7. [PMID:12015275]
9. VincentMCPujoALOlivierDCalvasPScreening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet 2003111639. [PubMed:12634864]
10. Byers PH. Killing the messenger: new insights into nonsensemediated mRNA decay. J Clin Invest 2002; 109:3-6. [PMID:11781342]
11. Automated splice site analyses http:\\www.splice.uwo.ca.
12. Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci 2009; 50:2581-90. [PMID: 19218613]