Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia

American Journal of Ophthalmology

Volumn 138, Issue 6, 2004, Pages 1016-1021

  Vincent, Marie Claire ^a,b   Gallai, Raffaella ^c   Olivier, David ^a   Speeg Schatz, Claude ^c   Flament, Jacques ^c   Calvas, Patrick ^a,b,e   Dollfus, Hélène ^c,d  

^a Serv de Genet Med   (France)

^b TOULOUSE UNIVERSITY HOSPITAL   (France)

^c Service d'Ophtalmologie   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTEINE; DNA; GLYCINE; MESSENGER RNA; TRANSCRIPTION FACTOR PAX6;

ADULT; ARTICLE; CLINICAL OBSERVATION; CODON; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; EXON; FAMILY; FEMALE; FOVEAL HYPOPLASIA; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HYPOPLASIA; INFANT; INTRON; MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; RETINA FOVEA; RNA SPLICING;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; FOVEA CENTRALIS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; IRIS; MOLECULAR SEQUENCE DATA; NYSTAGMUS, CONGENITAL; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER; TRANSCRIPTION FACTORS;

EID: 11144308812     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.08.003     Document Type: Article

References (32)

1. V. Van Heyningen, K. Williamson PAX6 in sensory development Hum Mol Genet 10 2002 1161 1167
2. J. Prosser, V. van Heyningen PAX 6 mutations reviewed Hum Mutat 11 1998 92 108
3. T. Glaser, D.S. Walton, R.L. Maas Genomic structure, evolutionary conservation and aniridia mutations in the human PAX 6 gene Nat Genet 2 1992 232 239
4. T. Jordan, I. Hanson, D. Zaletayev The human Pax 6 gene is mutated in two patients with aniridia Nature Genet 1 1992 328 332
5. I.M. Hanson, J.M. Fletcher, T. Jordan Mutation in the PAX 6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly Nat Genet 6 1994 168 173
6. F. Mirzayans, W.G. Pearce, I.M. McDonald, M.A. Walter Mutation of the PAX 6 gene in patients with autosomal dominant keratitis Am J Hum Genet 57 1995 539 548
7. N. Azuma, S. Nishina, H. Yanagisawa, T. Okuyama, M. Yamada PAX 6 missense mutation in isolated foveal hypoplasia Nat Genet 13 1996 141 142
8. N. Azuma, M. Yamada Missense mutation at the C terminus of the PAX 6 gene in ocular anterior segment anomalies Invest Ophthalmol Vis Sci 39 1998 828 830
9. N. Azuma, Y. Hotta, H. Tanaka, M. Yamada Missense mutation in the PAX 6 gene in aniridia Invest Ophathalmol Vis Sci 39 1998 2524 2528
10. N. Azuma, Y. Yamaguchi, H. Handa Mutations of the PAX6 gene detected in patients with a variety of optic nerve malformations Am J Hum Genet 72 2003 1565 1570
11. L.Y. Chao, V. Huff, L.C. Strong, G.F. Saunders Mutation in the PAX 6 gene in twenty patients with aniridia Hum Mutat 15 2000 332 339
12. S.K. Gupta, I.D. Becker, F. Tremblay, D.L. Guernsey, P. Neumann Genotype/phenotype correlations in aniridia Am J Ophthalmol 126 1998 203 210
13. I.M. Hanson, A. Churchill, J. Love Missense mutation in the most ancient residues of the PAX 6 paired domain underlie a spectrum of human congenital eye malformations Hum Mol Genet 8 1999 165 172
14. S. Singh, L.Y. Chao Mishra R, Davies J, Saunders G Missense mutations at the C-terminus of PAX6 negatively modulate homeodomain function Hum Mol Genet 10 2001 911 918
15. J. Love, R. Axton, A. Churchill, V. van Heyningen, I. Hanson A new set of primers for mutation analysis of the human Pax6 gene Hum Mutat 12 1998 128 134
16. M. Orita, Y. Suzuki, T. Sekiya Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction Genomics 5 1989 874 879
17. B. Budowle, R. Chakraborty, A. Guisti, A. Eisenberg, C. Allen Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE Am J Hum Genet 48 1991 137 144
18. M.C. Vincent, A.L. Pujo, D. Olivier, P. Calvas Screening for PAX6 mutation is consistent with haploinsufficiency as the main mechanism leading to various ocular defects Eur J Hum Genet 11 2003 163 169
19. I.M. Hanson, A. Seawright, K. Hardman PAX 6 mutations in aniridia Hum Mol Genet 7 1993 915 920
20. C.C.T. Ton, H. Hirvonen, H. Miwa Positional cloning and characterization of a paired-box and homeobox-containing gene from the aniridia region Cell 67 1991 1059 1074
21. J. Garnier, J.F. Gibrat, B. Robson R.F. Doolittle Methods in enzymology 266 1996 Academic Press New York 540 553
22. W.G. Pearce Variability of iris defects in autosomal dominant aniridia Can J Ophthalmol 29 1994 25 29
23. N. Azuma, Y. Yamaguchi, H. Hanada Missense mutation in the alternative splice region of the PAX 6 gene in the eye anomalies Am J Hum Genet 65 1999 656 663
24. Meire F, Schuil J, Boyle S, Hanson I, van Heyningen V. The human PAX6 allelic variant database. 2001: 249. Available at http://pax6.hgu.mrc.ac.uk/. Accessed July 30, 2004.
25. J.A. Epstein, T. Glaser, J. Cai Two independent and interactive DNA-binding subdomains of the PAX6 paired domain are regulated by alternative splicing Gene Dev 8 1994 2022 2034
26. H.A. Mintz-Hittner, R.E. Ferrell, L.A. Lyons, F.L. Kretzer Criteria to detect minimal expressivity within families with autosomal dominant aniridia Am J Ophthalmol 114 1992 700 707
27. R. Axton, I. Hanson, S. Danes, G. Sellar, V. van Heyningen, J. Prosser The incidence of PAX6 mutation in patients with simple aniridia an evaluation of mutation detection in 12 cases J Med Genet 34 1997 279 286
28. K. Grønskov, T. Rosenberg, A. Sand, K. Brondum Nielsen Mutational analysis of PAX6 16 novel mutations including 5 missense mutations with a mild aniridia phenotype Eur J Hum Genet 7 1999 274 286
29. L.E. Marquat, G.G. Carmichael Quality control of mRNA function Cell 104 2001 173 176
30. P.H. Byers Killing the messengers new insights into nonsense-mediated mRNA decay J Clin Invest 109 2002 3 6
31. M.T. Wolf, B. Lorenz, A. Winterpacht Ten novel mutations found in aniridia Hum Mutat 12 1998 304 313
32. S. Sonoda, Y. Isashiki, Y. Tabata A novel Pax6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia Graefes Arch Clin Exp Ophthalmol 238 2000 552 558