The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 - PubMed (original) (raw)
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
D Y Nishimura et al. Nat Genet. 1998 Jun.
Abstract
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have identified two primary congenital glaucoma (PCG) patients with chromosomal anomalies involving 6p25. In order to identify a gene involved in PCG, the chromosomal breakpoints in a patient with a balanced translocation between 6p25 and 13q22 were cloned. Cloning of the 6p25 breakpoint led to the identification of two candidate genes based on proximity to the breakpoint. One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy. Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes.
Similar articles
- Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T. Lehmann OJ, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9. Invest Ophthalmol Vis Sci. 2002. PMID: 12036988 - Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. Mirzayans F, et al. Eur J Hum Genet. 2000 Jan;8(1):71-4. doi: 10.1038/sj.ejhg.5200354. Eur J Hum Genet. 2000. PMID: 10713890 - Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA. Mears AJ, et al. Am J Hum Genet. 1998 Nov;63(5):1316-28. doi: 10.1086/302109. Am J Hum Genet. 1998. PMID: 9792859 Free PMC article. - Axenfeld-Rieger syndrome in the age of molecular genetics.
Alward WL. Alward WL. Am J Ophthalmol. 2000 Jul;130(1):107-15. doi: 10.1016/s0002-9394(00)00525-0. Am J Ophthalmol. 2000. PMID: 11004268 Review. - Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Gould DB, et al. BMC Med Genet. 2004 Jun 25;5:17. doi: 10.1186/1471-2350-5-17. BMC Med Genet. 2004. PMID: 15219231 Free PMC article. Review.
Cited by
- Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
Havrylov S, Chrystal P, van Baarle S, French CR, MacDonald IM, Avasarala J, Rogers RC, Berry FB, Kume T, Waskiewicz AJ, Lehmann OJ. Havrylov S, et al. Sci Rep. 2024 Aug 31;14(1):20278. doi: 10.1038/s41598-024-71159-y. Sci Rep. 2024. PMID: 39217245 Free PMC article. - Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Fuse N, Kimura M, Shimizu A, Koshiba S, Hamanaka T, Nakamura M, Ishida N, Sakai H, Ikeda Y, Mori K, Endo A, Nagasaki M, Katsuoka F, Yasuda J, Matsubara Y, Nakazawa T, Yamamoto M. Fuse N, et al. Jpn J Ophthalmol. 2024 Aug 19. doi: 10.1007/s10384-024-01103-0. Online ahead of print. Jpn J Ophthalmol. 2024. PMID: 39158757 - Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM, Seese SE, Costakos D, Semina EV. Reis LM, et al. Prog Retin Eye Res. 2024 Sep;102:101288. doi: 10.1016/j.preteyeres.2024.101288. Epub 2024 Aug 2. Prog Retin Eye Res. 2024. PMID: 39097141 Review. - Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O, Malka S, Owen N, Aliyev E, Vempalli FR, Ocieczek P, Al-Khathlan B; Genomics England Research Consortium; Fakhro K, Moosajee M. Al-Saei O, et al. BMC Genomics. 2024 May 16;25(1):484. doi: 10.1186/s12864-024-10353-8. BMC Genomics. 2024. PMID: 38755526 Free PMC article. - Glaucoma Animal Models beyond Chronic IOP Increase.
Tsai T, Reinehr S, Deppe L, Strubbe A, Kluge N, Dick HB, Joachim SC. Tsai T, et al. Int J Mol Sci. 2024 Jan 11;25(2):906. doi: 10.3390/ijms25020906. Int J Mol Sci. 2024. PMID: 38255979 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases