ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Human Molecular Genetics

Volumn 22, Issue 16, 2013, Pages 3250-3258

  Yahyavi, Mani ^a   Abouzeid, Hana ^c   Gawdat, Ghada ^d   de Preux, Anne Sophie ^b   Xiao, Tong ^b   Bardakjian, Tanya ^e   Schneider, Adele ^e   Choi, Alex ^a   Jorgenson, Eric ^f   Baier, Herwig ^b   Sada, Mohamad El ^d   Schorderet, Daniel F ^g,h,i   Slavotinek, Anne M ^a  

^a Division of Medical Genetics   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d CAIRO UNIVERSITY   (Egypt)

^e EINSTEIN MEDICAL CENTER   (United States)

^f DIVISION OF RESEARCH   (United States)

^g EPFL   (Switzerland)

^h Institut de Recherche en Ophtalmologie   (Switzerland)

ⁱ IRO   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MORPHOLINO OLIGONUCLEOTIDE;

ANOPHTHALMIA; ARTICLE; DEVELOPMENTAL DISORDER; EXOME; GENE; GENE ALDH1A3; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN GENOME; LARVAL STAGE; LOSS OF FUNCTION MUTATION; MICROPHTHALMIA; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; OPTIC CHIASM; OPTIC NERVE HYPOPLASIA; PATHOGENESIS; PRIORITY JOURNAL; TECTUM; ZEBRA FISH;

ALDEHYDE OXIDOREDUCTASES; ANIMALS; ANOPHTHALMOS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; EXOME; EYE; FEMALE; GENOME; HOMOZYGOTE; HUMANS; INFANT; LARVA; MALE; MICROPHTHALMOS; OPTIC CHIASM; OPTIC NERVE; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA; ZEBRAFISH;

EID: 84881218501     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt179     Document Type: Article

References (45)

1. Kawaguchi, R., Yu, J., Honda, J., Hu, J., Whitelegge, J., Ping, P., Wiita, P., Bok, D. and Sun, H. (2007) Amembrane receptor for retinol binding protein mediates cellular uptake of vitamin A. Science, 315, 820-825.
2. Duester, G. (2009) Keeping an eye on retinoic acid signaling during eye development. Chem. Biol. Interact., 178, 178-181.
3. Rhinn, M. and Dollé, P. (2012) Retinoic acid signalling during development. Development, 139, 843-845.
4. Kumar, S. and Duester, G. (2011) SnapShot: retinoic acid signaling. Cell, 147, 1422.
5. Ghyselinck, N.B., Dupé, V., Dierich, A., Messaddeq, N., Garnier, J.M., Rochette-Egly, C., Chambon, P. and Mark, M. (1997) Role of the retinoic acid receptor beta (RARbeta) during mouse development. Int. J. Dev. Biol., 41, 425-447.
6. Hornby, S.J., Ward, S.J. and Gilbert, C.E. (2003) Eye birth defects in humans maybe caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy. Med. Sci. Monit., 9, HY23-HY26.
7. See, A.W. and Clagett-Dame, M. (2009) The temporal requirement for vitaminAin the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina. Dev. Biol., 325, 94-105.
8. Casey, J., Kawaguchi, R., Morrissey, M., Sun, H., McGettigan, P., Nielsen, J.E., Conroy, J., Regan, R., Kenny, E., Cormican, P. et al. (2011) First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum. Mutat., 32, 1417-1426.
9. Chassaing, N., Golzio, C., Odent, S., Lequeux, L., Vigouroux, A., Martinovic-Bouriel, J., Tiziano, F.D., Masini, L., Piro, F., Maragliano, G. et al. (2009) Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum. Mutat., 30, E673-E681.
10. Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., Fitzpatrick, D.R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J.L., Chitayat, D. et al. (2007) Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am. J. Hum. Genet., 80, 550-560.
11. Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessieres, B., Bonniere, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S. et al. (2007) Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am. J. Hum. Genet., 80, 1179-1187.
12. West, B., Bove, K.E. and Slavotinek, A.M. (2009) Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am. J. Med. Genet. A, 149A, 539-542.
13. Segel, R., Levy-Lahad, E., Pasutto, F., Picard, E., Rauch, A., Alterescu, G. and Schimmel, M.S. (2009) Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations-what are the minimal criteria?. Am. J. Med. Genet. A, 149A, 2457-2463.
14. Fantes, J., Ragge, N.K., Lynch, S.A., McGill, N.I., Collin, J.R., Howard-Peebles, P.N., Hayward, C., Vivian, A.J., Williamson, K., van Heyningen, V. et al. (2003) Mutations in SOX2 cause anophthalmia. Nat. Genet., 33, 461-463.
15. Schneider, A., Bardakjian, T., Reis, L.M., Tyler, R.C. and Semina, E.V. (2009) Novel SOX2 mutations and genotype phenotype correlation in anophthalmia and microphthalmia. Am. J. Med. Genet. A, 149A, 2706-2715.
16. Verma, A.S. and Fitzpatrick, D.R. (2007) Anophthalmia and microphthalmia. Orphanet. J. Rare Dis., 2, 47.
17. Bardakjian, T., Weiss, A. and Schneider, A.S. Anophthalmia/ microphthalmia overview. In Pagon, R.A., Bird, T.C., Dolan, C.R. and Stephens, K. (eds), GeneReviews [Internet]. University of Washington, Seattle, WA, 1993-2004.
18. Gonzalez-Rodriguez, J., Pelcastre, E.L., Tovilla-Canales, J.L., Garcia-Ortiz, J.E., Amato-Almanza, M., Villanueva-Mendoza, C., Espinosa-Mattar, Z. and Zenteno, J.C. (2010) Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br. J. Ophthalmol., 94, 1100-1104.
19. Slavotinek, A.M. (2011) Eye development genes and known syndromes. Mol. Genet. Metab., 104, 448-456.
20. Orr, A., Dubé, M.P., Zenteno, J.C., Jiang, H., Asselin, G., Evans, S.C., Caqueret, A., Lakosha, H., Letourneau, L., Marcadier, J. et al. (2011) Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Mol. Vis., 17, 1850-1861.
21. Balikova, I., de Ravel, T., Ayuso, C., Thienpont, B., Casteels, I., Villaverde, C., Devriendt, K., Fryns, J.P. and Vermeesch, J.R. (2011) High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am. J. Ophthalmol., 151, 1087-1094.
22. Raca, G., Jackson, C.A., Kucinskas, L., Warman, B., Shieh, J.T., Schneider, A., Bardakjian, T.M. and Schimmenti, L.A. (2011) Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet. Med., 13, 437-442.
23. Choi, Y., Sims, G.E., Murphy, S., Miller, J.R. and Chan, A.P. (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One, 7, e46688.
24. Choi, Y. (2012) A fast computation of pairwise sequence alignment scores between a protein and a set of single-locus variants of another protein. In Proceedings of the ACM Conference on Bioinformatics, Computational Biology and Biomedicine (BCB'12). ACM, New York, NY, USA, pp. 414-417.
25. Le, H.G., Dowling, J.E. and Cameron, D.J. (2012) Early retinoic acid deprivation in developing zebrafish results in microphthalmia. Vis. Neurosci., 29, 219-228.
26. Dupé, V., Matt, N., Garnier, J.M., Chambon, P., Mark, M. and Ghyselinck, N.B. (2003) 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, 14036-14041.
27. Molotkov, A., Molotkova, N. and Duester, G. (2006) Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning. Development, 133, 1901-1910.
28. Xiao, T., Roeser, T., Staub, W. and Baier, H. (2005) A GFP-based genetic screen reveals mutations that disrupt the architecture of the zebrafish retinotectal projection. Development, 132, 2955-2967.
29. Fares-Taie, L., Gerber, S., Chassaing, N., Clayton-Smith, J., Hanein, S., Silva, E., Serey, M., Serre, V., Gérard, X., Baumann, C. et al. (2013) ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am. J. Hum. Genet., 92, 265-270.
30. Liang, D., Zhang, M., Bao, J., Zhang, L., Xu, X., Gao, X. and Zhao, Q. (2008) Expressions of Raldh3 and Raldh4 during zebrafish early development. Gene Expr. Patterns, 8, 248-253.
31. Isken, A., Golczak, M., Oberhauser, V., Hunzelmann, S., Driever, W., Imanishi, Y., Palczewski, K. and von Lintig, J. (2008) RBP4disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. Cell Metab., 7, 258-268.
32. Biehlmaier, O., Lampert, J.M., von Lintig, J. and Kohler, K. (2005) Photoreceptor morphology is severely affected in the beta, beta-carotene-15,15'-oxygenase (bcox) zebrafish morphant. Eur. J. Neurosci., 21, 59-68.
33. Marsh-Armstrong, N., McCaffery, P., Gilbert, W., Dowling, J.E. and Dräger, U.C. (1994) Retinoic acid is necessary for development of the ventral retina in zebrafish. Proc. Natl Acad. Sci. USA, 91, 7286-7290.
34. Sulik, K.K., Dehart, D.B., Rogers, J.M. and Chernoff, N. (1995) Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. Teratology, 51, 398-403.
35. Lohnes, D., Mark, M., Mendelsohn, C., Dollé, P., Dierich, A., Gorry, P., Gansmuller, A. and Chambon, P. (1994) Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants. Development, 120, 2723-2748.
36. Matt, N., Dupé, V., Garnier, J.M., Dennefeld, C., Chambon, P., Mark, M.and Ghyselinck, N.B. (2005) Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells. Development, 132, 4789-4800.
37. Jho, E.H., Zhang, T., Domon, C., Joo, C.K., Freund, J.N. and Costantini, F. (2002) Wnt/beta-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway. Mol. Cell. Biol., 22, 1172-1183.
38. Zhou, C.J., Molotkov, A., Song, L., Li, Y., Pleasure, D.E., Pleasure, S.J. and Wang, Y.Z. (2008) Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev. Dyn., 237, 3681-3689.
39. Halilagic, A., Ribes, V., Ghyselinck, N.B., Zile, M.H., Dollé, P. and Studer, M. (2007) Retinoids control anterior and dorsal properties in the developing forebrain. Dev. Biol., 303, 362-367.
40. Drmanac, R., Sparks, A.B., Callow, M.J., Halpern, A.L., Burns, N.L., Kermani, B.G., Carnevali, P., Nazarenko, I., Nilsen, G.B., Yeung, G. et al. (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science, 327, 78-81.
41. Roach, J.C., Glusman, G., Smit, A.F., Huff, C.D., Hubley, R., Shannon, P.T., Rowen, L., Pant, K.P., Goodman, N., Bamshad,M. et al. (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science, 328, 636-639.
42. Xiao, T. and Baier, H. (2007) Lamina-specific axonal projections in the zebrafish tectum require the type IV collagen Dragnet. Nat. Neurosci., 10, 1529-1537.
43. Bill, B.R., Petzold, A.M., Clark, K.J., Schimmenti, L.A. and Ekker, S.C. (2009) A primer for morpholino use in zebrafish. Zebrafish, 6, 69-77.
44. Chao, R., Nevin, L., Agarwal, P., Riemer, J., Bai, X., Delaney, A., Akana, M., JimenezLopez, N., Bardakjian, T., Schneider, A. et al. (2010) A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One, 5, e10565.
45. Muto, A., Orger, M.B., Wehman, A.M., Smear, M.C., Kay, J.N., Page-McCaw, P.S., Gahtan, E., Xiao, T., Nevin, L.M., Gosse, N.J. et al. (2005) Forward genetic analysis of visual behavior in zebrafish. PLoS Genet., 1, e66.