Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14

Human Genetics

Volumn 122, Issue 6, 2008, Pages 589-593

  Li, Hui ^a,b,c   Wang Jia Xin, J X ^b   Wang, Cheng Ye ^a,b,c   Yu, Ping ^d   Zhou, Qiang ^e   Chen, Yong Gang ^d   Zhao, Lu Hang ^d   Zhang, Ya Ping ^a,b  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b YUNNAN UNIVERSITY   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^d ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e Traditional Chinese Medical Hospital of Orthopedics and Traumatology   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; GENOMIC DNA; INHIBIN B; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MICROSATELLITE DNA; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR PAX6;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CHROMOSOME 11Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 6P; CHROMOSOME 8P; CONTROLLED STUDY; DNA EXTRACTION; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC REGULATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MICROPHTHALMIA; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; FAMILY; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROPHTHALMOS; PEDIGREE; RECOMBINATION, GENETIC;

EID: 37749035976     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0435-y     Document Type: Article

References (28)

1. Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS (2004) CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet 115:302-309
2. Bermejo E, Martinez-Frias ML (1998) Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 75:497-504
3. Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS (1998) A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 62:1113-1116
4. Brockhurst RJ (1974) Nanophthalmos with uveal effusion: A new clinical entity. Trans Am Ophthalmol Soc 72:371-403
5. Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR (2000) Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 25:397-401
6. Friedman GC, O'Leary DD (1996) Retroviral misexpression of engrailed genes in the chick optic tectum perturbs the topographic targeting of retinal axons. J Neurosci 16:5498-5509
7. Furimsky M, Wallace VA (2006) Complementary Gli activity mediates early patterning of the mouse visual system. Dev Dyn 235:594-605
8. Graham CA, Redmond RM, Nevin NC (1991) X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet 12:43-48
9. Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI (2005) SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am J Med Genet A 138:95-98
10. Hanson IM (2003) PAX6 and congenital eye malformations. Pediatr Res 54:791-796
11. Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H (1993) Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74:395-404
12. Hu DN (1987) Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet 24:584-588
13. Itasaki N, Nakamura H (1996) A role for gradient en expression in positional specification on the optic tectum. Neuron 16:55-62
14. Jean D, Ewan K, Gruss P (1998) Molecular regulators involved in vertebrate eye development. Mech Dev 76:3-18
15. Kallen B, Robert E, Harris J (1996) The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 25:1009-1016
16. Morle L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P (2000) A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet 67:1592-1597
17. Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornes A, Mick A, Boehnke M, Vollrath D, Richards JE (1998) Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet 63:1411-1418
18. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76:1008-1022
19. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Konka A, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG (2005) Familial vesicoureteral reflux: Testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16:1781-1787
20. Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M (2003) Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A 116:215-221
21. Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255
22. Vingolo EM, Steindl K, Forte R, Zompatori L, Iannaccone A, Sciarra A, Del Porto G, Pannarale MR (1994) Autosomal dominant simple microphthalmos. J Med Genet 31:721-725
23. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH (2004) Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 13:315-322
24. Warburg M (1993) Classification of microphthalmos and coloboma. J Med Genet 30:664-669
25. Weiss AH, Kousseff BG, Ross EA, Longbottom J (1989) Simple microphthalmos. Arch Ophthalmol 107:1625-1630
26. Yin Y-N, Li H, Yu P, Zhou Q, Zhao L-H, Zhang Y-P (2006) Exclusive gene mapping of congenital microphthalmia in a Chinese family. Chin Sci Bull 51:11-14
27. Ying S-Y, Zhan Y, Zhang Z (1997) Changes in the immunoreactivity for inhibin in mouse retina during development of photoreceptor cells. Dev Neurosci 19:184-188
28. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Konka A, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG (2005) Familial vesicoureteral reflux: Testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16:1781-1787