Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1382-1388

  Fang, Jianming ^a   Dagenais, Susan L ^a   Erickson, Robert P ^b   Arlt, Martin F ^a   Glynn, Michael W ^a   Gorski, Jerome L ^a   Seaver, Laurie H ^c   Glover, Thomas W ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME 16Q; CLEFT PALATE; CONGENITAL HEART MALFORMATION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHEDEMA; LYMPHEDEMA DISTICHIASIS SYNDROME; PHOTOPHOBIA; PLEIOTROPY; PRIORITY JOURNAL;

EID: 0033646615     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316915     Document Type: Article

References (28)

1. Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content
2. Congenital heart disease in patients with primary lymphoedemas
3. The canine copper toxicosis locus is not syntenic with ATP7B or ATX1 and maps to a region showing homology to human 2p21
4. A 'balanced' Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome
5. A new syndrome combining pterygium colli with developmental anomalies of the eyelids and lymphatics of the lower extremities
6. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
7. Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
8. AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily
9. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis
10. Clustered arrangement of winged helix genes fkh-6 and MFH-1; possible implications for mesoderm development
11. Unified nomenclature for the winged helix/forkhead transcription factors
12. Six members of the mouse forkhead gene family are developmentally regulated
13. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
14. Five years on the wings of fork head
15. Position effect in human genetic disease
16. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
17. A gene for lymphedemadistichiasis maps to 16q24.3
18. Axenfeld-Rieger syndrome resulting from mutation of the FKHL-7 gene on chromosome 6p25
19. Isolation of the mouse (MFH-1) and human (FKHL-14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures
20. The dominant gene in man
21. The forkhead transcription factor gene FKHL-7 is responsible for glaucoma phenotypes which map to 6p25
22. Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family
23. Distichiasislymphoedema. A hereditary syndrome of multiple congenital defects
24. Y;16 translocation breakpoint associated with a partial Turner phenotype identifies a foamy virus insertion
25. Hereditary spinal arachnoid cysts, distichiasis, and lymphedema
26. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
27. The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo
28. MFH-1 is required for bone morphogenetic protein-2-induced osteoblastic differentiation of C2C12 myoblasts