ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 265-270

  Fares Taie, Lucas ^a   Gerber, Sylvie ^a   Chassaing, Nicolas ^b,c   Clayton Smith, Jill ^d   Hanein, Sylvain ^a   Silva, Eduardo ^e   Serey, Margaux ^a   Serre, Valérie ^a,f   Gérard, Xavier ^a   Baumann, Clarisse ^g   Plessis, Ghislaine ^h   Demeer, Bénédicte ⁱ   Brétillon, Lionel ^j   Bole, Christine ^f   Nitschke, Patrick ^f   Munnich, Arnold ^a   Lyonnet, Stanislas ^a   Calvas, Patrick ^b,c   Kaplan, Josseline ^a   Ragge, Nicola ^k,l   Rozet, Jean Michel ^a   more..

^a INSERM   (France)

^b CHU PURPAN   (France)

^c UNIVERSITÉ PAUL SABATIER   (France)

^d ST MARY S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF COIMBRA   (Portugal)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h CHU CÔTE DE NACRE   (France)

ⁱ AMIENS UNIVERSITY HOSPITAL   (France)

^j UNIVERSITÉ DE BOURGOGNE   (France)

^k UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^l OXFORD BROOKES UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE 1A3; RETINAL DEHYDROGENASE; RETINOIC ACID; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ARTICLE; CONSANGUINEOUS MARRIAGE; EXOME; EYE DEVELOPMENT; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MAPPING; GENETIC CODE; HOMOZYGOSITY; HUMAN; MICROPHTHALMIA; MISSENSE MUTATION; NONSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ALDEHYDE DEHYDROGENASE; ANOPHTHALMOS; CHROMOSOME SEGREGATION; EXONS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HEK293 CELLS; HOMOZYGOTE; HUMANS; INTRONS; MALE; MICROPHTHALMOS; MUTANT PROTEINS; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84873710178     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.003     Document Type: Article

References (23)

1. A.S. Verma, and D.R. Fitzpatrick Anophthalmia and microphthalmia Orphanet J. Rare Dis. 2 2007 47
2. S. Tucker, B. Jones, and R. Collin Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos Eye (Lond.) 10 1996 310 314
3. T.M. Bardakjian, and A. Schneider The genetics of anophthalmia and microphthalmia Curr. Opin. Ophthalmol. 22 2011 309 313
4. A.M. Slavotinek Eye development genes and known syndromes Mol. Genet. Metab. 104 2011 448 456
5. O. Shaham, Y. Menuchin, C. Farhy, and R. Ashery-Padan Pax6: a multi-level regulator of ocular development Prog. Retin. Eye Res. 31 2012 351 376
6. D. Morrison, D. FitzPatrick, I. Hanson, K. Williamson, V. van Heyningen, B. Fleck, I. Jones, J. Chalmers, and H. Campbell National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology J. Med. Genet. 39 2002 16 22
7. K.A. Williamson, A.M. Hever, J. Rainger, R.C. Rogers, A. Magee, Z. Fiedler, W.T. Keng, F.H. Sharkey, N. McGill, and C.J. Hill Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome Hum. Mol. Genet. 15 2006 1413 1422
8. N. Chassaing, C. Golzio, S. Odent, L. Lequeux, A. Vigouroux, J. Martinovic-Bouriel, F.D. Tiziano, L. Masini, F. Piro, and G. Maragliano Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia Hum. Mutat. 30 2009 E673 E681
9. N. Chassaing, N. Ragge, A. Kariminejad, A. Buffet, S. Ghaderi-Sohi, J. Martinovic, and P. Calvas Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia Clin. Genet. 9999 2012
10. N.K. Ragge, A.G. Brown, C.M. Poloschek, B. Lorenz, R.A. Henderson, M.P. Clarke, I. Russell-Eggitt, A. Fielder, D. Gerrelli, and J.P. Martinez-Barbera Heterozygous mutations of OTX2 cause severe ocular malformations Am. J. Hum. Genet. 76 2005 1008 1022
11. N.K. Ragge, B. Lorenz, A. Schneider, K. Bushby, L. de Sanctis, U. de Sanctis, A. Salt, J.R. Collin, A.J. Vivian, and S.L. Free SOX2 anophthalmia syndrome Am. J. Med. Genet. A. 135 2005 1 7 discussion 8
12. P. Bakrania, D.O. Robinson, D.J. Bunyan, A. Salt, A. Martin, J.A. Crolla, A. Wyatt, A. Fielder, J. Ainsworth, and A. Moore SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions Br. J. Ophthalmol. 91 2007 1471 1476
13. F. Grün, Y. Hirose, S. Kawauchi, T. Ogura, and K. Umesono Aldehyde dehydrogenase 6, a cytosolic retinaldehyde dehydrogenase prominently expressed in sensory neuroepithelia during development J. Biol. Chem. 275 2000 41210 41218
14. C.E. Graham, K. Brocklehurst, R.W. Pickersgill, and M.J. Warren Characterization of retinaldehyde dehydrogenase 3 Biochem. J. 394 2006 67 75
15. A. Cvekl, and W.L. Wang Retinoic acid signaling in mammalian eye development Exp. Eye Res. 89 2009 280 291
16. G. Duester Keeping an eye on retinoic acid signaling during eye development Chem. Biol. Interact. 178 2009 178 181
17. S. Fuhrmann Eye morphogenesis and patterning of the optic vesicle Curr. Top. Dev. Biol. 93 2010 61 84
18. K. Arnold, L. Bordoli, J. Kopp, and T. Schwede The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling Bioinformatics 22 2006 195 201
19. F. Kiefer, K. Arnold, M. Künzli, L. Bordoli, and T. Schwede The SWISS-MODEL Repository and associated resources Nucleic Acids Res. 37 2009 D387 D392
20. M.C. Peitsch Protein modeling by E-mail Nature Biotechnology 13 1995 658 660
21. V. Dupé, N. Matt, J.M. Garnier, P. Chambon, M. Mark, and N.B. Ghyselinck A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment Proc. Natl. Acad. Sci. USA 100 2003 14036 14041
22. A. Molotkov, N. Molotkova, and G. Duester Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning Development 133 2006 1901 1910
23. R. Kawaguchi, J. Yu, J. Honda, J. Hu, J. Whitelegge, P. Ping, P. Wiita, D. Bok, and H. Sun A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A Science 315 2007 820 825