Exclusive gene mapping of congenital microphthalmia in a Chinese family

Chinese Science Bulletin

Volumn 51, Issue 23, 2006, Pages 2868-2871

  Yin, Yanan ^a,b   Li, Hui ^b,c   Yu, Ping ^a   Zhou, Qiang ^d   Zhao, Luhang ^a   Zhang, Ya Ping ^b  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b KUNMING INSTITUTE OF ZOOLOGY   (China)

^c UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

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

Author keywords

Congenital microphthalmia; Gene mapping; Linkage analysis; Microsatellite markers

Indexed keywords

EID: 33845643986     PISSN: 10016538     EISSN: 18619541     Source Type: Journal    
DOI: 10.1007/s11434-006-2210-1     Document Type: Article

References (16)

1. Weiss A H, Kousseff B G, Ross E A, et al. Simple microphthalmos. Arch Ophthalmol, 1989, 107: 1625-1630
2. Warburg M. Classification of microphthalmos and coloboma. J Med Genet, 1993, 30: 664-669
3. HU D N. Prevalence and mode of inheritance of major genetic eye diseases in China. J Med Genet, 1987, 24: 584-588
4. Freund C, Horsford D J, Mcinnes R R. Transcription factor genes and the developing eye: A genetic perspective. Hum Mol Genet, 1996, 5: 1471-1488
5. Graw J. Genetic aspects of embryonic eye development in vertebrates. Dev Genet, 1996, 18: 181-197
6. Tassabehji M, Newton V E, Read A P. Waardenburg syndrome type 2 caused by mutation in the human micmphthalmia (MITF) gene. Nat Genet, 1994, 8: 251-255
7. Hanson I M. PAX6 and congenital eye malformations. Pediatr Res, 2003, 54: 791-796
8. Fantes J, Ragge N K, Lynch S A, et al. Mutations in SOX2 cause anophthalmia. Nature Genet, 2003, 33: 461-462
9. Ragge N K, Lorenz B, Schneider A, et al. SOX2 anophthalmia syndrome. Am J Med Genet, 2005, 135: 1-7
10. Hagstrom S A, Pauer G, Reid J, et al. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies . Am J Med Genet, 2005, 138: 95-98
11. Othman M I, Sullivan S A, Skuta G L, et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet, 1998, 63: 1411-1418
12. Bessant D A, Khaliq S, Hameed A, et al. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet, 1998, 62: 1113-1116
13. Morle L, Bozon M, Zech J C, et al. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet, 2000, 67: 1592-1597
14. Liu W Q, He L. Large-scale automatical gene scanning and linkage analysis - The strategy for mapping hereditary disease associated genes. Chin Bull Life Sci (in Chinese), 1998, 10: 233-235
15. Zhou Y M, Zhang D Q, Mao Z D, et al. Congenital Microphthalmia - Report of 25 families. Chin J Med Genet (in Chinese), 1988, 5: 57-58
16. Yu P, Zhou Q, Guo L, et al. The preliminary linkage analysis of the autosomal dominant hereditary microphthalmia with 12 microsatellite markers. Acta Biol Exper Sin (in Chinese), 2004, 37: 85-90