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Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

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Abstract
The forkhead transcription factor gene FOXC1 (formerly FKHL7) is responsible for a number of glaucoma phenotypes in families in which the disease maps to 6p25, although mutations have not been found in all families in which the disease maps to this region. In a large pedigree with iris hypoplasia and glaucoma mapping to 6p25 (peak LOD score 6.20 [recombination fraction 0] at DGS967), no FOXC1 mutations were detected by direct sequencing. However, genotyping with microsatellite repeat markers suggested the presence of a chromosomal duplication that segregated with the disease phenotype. The duplication was confirmed in affected individuals by FISH with markers encompassing FOXC1. These results provide evidence of gene duplication causing developmental disease in humans, with increased gene dosage of either FOXC1 or other, as yet unknown genes within the duplicated segment being the probable mechanism responsible for the phenotype.
Keywords
6P25, FKHL7

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Chicago
Lehmann, Ordan J, Neil D Ebenezer, Tim Jordan, Margaret Fox, Luise Ocaka, Annette Payne, Bart Leroy, et al. 2000. “Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma.” American Journal of Human Genetics 67 (5): 1129–1135.
APA
Lehmann, O. J., Ebenezer, N. D., Jordan, T., Fox, M., Ocaka, L., Payne, A., Leroy, B., et al. (2000). Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. AMERICAN JOURNAL OF HUMAN GENETICS, 67(5), 1129–1135.
Vancouver
1.
Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. AMERICAN JOURNAL OF HUMAN GENETICS. 2000;67(5):1129–35.
MLA
Lehmann, Ordan J, Neil D Ebenezer, Tim Jordan, et al. “Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma.” AMERICAN JOURNAL OF HUMAN GENETICS 67.5 (2000): 1129–1135. Print.
@article{142752,
  abstract     = {The forkhead transcription factor gene FOXC1 (formerly FKHL7) is responsible for a number of glaucoma phenotypes in families in which the disease maps to 6p25, although mutations have not been found in all families in which the disease maps to this region. In a large pedigree with iris hypoplasia and glaucoma mapping to 6p25 (peak LOD score 6.20 [recombination fraction 0] at DGS967), no FOXC1 mutations were detected by direct sequencing. However, genotyping with microsatellite repeat markers suggested the presence of a chromosomal duplication that segregated with the disease phenotype. The duplication was confirmed in affected individuals by FISH with markers encompassing FOXC1. These results provide evidence of gene duplication causing developmental disease in humans, with increased gene dosage of either FOXC1 or other, as yet unknown genes within the duplicated segment being the probable mechanism responsible for the phenotype.},
  author       = {Lehmann, Ordan J and Ebenezer, Neil D and Jordan, Tim and Fox, Margaret and Ocaka, Luise and Payne, Annette and Leroy, Bart and Clark, Brian J and Hitchings, Roger A and Povey, Sue and Khaw, Peng T and Bhattacharya, Shomi S},
  issn         = {0002-9297},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  keyword      = {6P25,FKHL7},
  language     = {eng},
  number       = {5},
  pages        = {1129--1135},
  title        = {Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma},
  url          = {http://dx.doi.org/10.1016/S0002-9297(07)62943-7},
  volume       = {67},
  year         = {2000},
}

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