Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions

Investigative Ophthalmology and Visual Science

Volumn 43, Issue 6, 2002, Pages 1843-1849

  Lehmann, Ordan J ^a   Ebenezer, Neil D ^a   Ekong, Rosemary ^a   Ocaka, Louise ^a   Mungall, Andrew J ^a   Fraser, Scott ^a   McGill, James I ^a   Hitchings, Roger A ^a   Khaw, Peng T ^a   Sowden, Jane C ^a   Povey, Sue ^a   Walter, Michael A ^a   Bhattacharya, Shomi S ^a   Jordan, Tim ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 6P; CONTROLLED STUDY; CORNEA DISEASE; EYE DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENOTYPE; GLAUCOMA; HUMAN; HUMAN TISSUE; IRIS DISEASE; MONOSOMY; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME; TRISOMY; UNITED KINGDOM;

BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CONTIG MAPPING; CORNEA; DNA-BINDING PROTEINS; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DUPLICATION; GENE REARRANGEMENT; GENOTYPE; GLAUCOMA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; IRIS; MALE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 0036272052     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
2. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
3. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
4. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
5. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
6. Familial iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly
7. Advances in fluorescent in situ hybridisation
8. Fluorescent in situ hybridization (FISH) to mouse chromosomes
9. The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye
10. Sequence and expression of zebrafish foxc1a and foxc1b, encoding conserved forkhead/winged helix transcription factors
11. Roles for the winged helix transcription factors Mf1 and Mfh1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles
12. Murine forkbead/winged helix genes Foxc1 (Mf1) and Foxc2(Mfh1) are required for the early organogenesis of the kidney and urinary tract
13. The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somatogenesis
14. The forkhead/winged helix gene mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus
15. Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (cH/Mf1) arise from a winged helix/forkhead transcriptionfactor gene
16. Distal 6p deletion syndrome: A report of a case with anterior chamber eye anomaly and review of published reports
17. DNA duplication associated with Charcot-Marie-Tooth Disease Type 1A
18. Detection of tandem duplications and implications for linkage analysis
19. Comparison of genotype with glaucoma incidence and treatment in Axenfeld-Rieger patients
20. An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2α that affects anterior eye chamber development
21. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
22. A common molecular basis for rearrangement disorders on chromosome 22q11
23. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
24. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
25. Molecular mechanism for duplication 17p11.2: The homologous recombination reciprocal of the Smith-Magenis microdeletion
26. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology
27. Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterisation of breakpoints by interphase FISH
28. Proteolipid protein gene: Pelixaeus-Merzbacher disease in humans and neurodegeneration in mice
29. Identification of a fourth Rieger Syndrome locus on 16q24
30. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
31. Influence of PAX6 gene dosage on development: Over expression causes severe eye abnormalities