Mutation analysis of FOXL2 gene and its structure portien in patients of blepharophimosis-ptosis-epicanthus inversus syndrome

Chinese Journal of Ophthalmology

Volumn 43, Issue 6, 2007, Pages 535-539

  Lin, Li Xin ^a   Tang, Sheng Jian ^a   Wang, Xiao Ke ^a   Sun, Yan ^a   Wang, Yan Li ^a  

^a WEIFANG MEDICAL UNIVERSITY   (China)

Author keywords

Blepharophimosis; DNA binding proteins; Mutation; Protein conformation; Transcription factors

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; FOXL2 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BLEPHAROPHIMOSIS; FEMALE; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN SECONDARY STRUCTURE;

AMINO ACID SEQUENCE; BLEPHAROPHIMOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 34547914479     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet, 1983, 35: 1020-1027.
2. Amati P, Chomel JC, Nivelon-Chevalier A, et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet, 1995, 96: 213-215.
3. Harrar HS, Jeffry S, Patton MA. Linkage analysis in blepharophimosis-ptosis snydrome confirms localization to 3q21-24. J Med Genet, 1995, 32: 774-777.
4. Crisponi L, Deiana M, Loi A, et al. The pupative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet, 2001, 27: 159-166.
5. De Baere E, Beysen D, Oley C, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet, 2003, 72: 478-487.
6. Cha SC, Jang YS, Lee JH, et al. Mutational analysis of forkhead transcriptional factor (FOXL2) in Korean Patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Clin Genet, 2003, 64: 485-490.
7. Colcquet J, De Baere E, Greil M, et al. Structure, evolution and expression of the FOXL2 transcription unit. Cytogenet Genome Res, 2003, 101: 206-211.
8. Dollfus H, Stoetzel C, Riehm S, et al. Sporadic and familial blepharophimosis-ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet, 2003, 63: 117-120.
9. Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet, 1988, 25: 47-51.
10. Barishak YR. Embryology of the eye and its adnexae. Dev Ophthalmol, 1992, 24: 1-142.
11. Loffler KA, Zarkower D, Koopman P. Etiology of ovarin failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology, 2003, 144: 3232-3243.
12. Raile K, Stobbe H, Trobs RB, et al. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/ epicanthus inversus syndrome. Eur J Endocrinol, 2005, 153: 353-358.
13. Goodman FR, Mundlos S, Muragaki Y, et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci USA, 1997, 94: 7458-7463.
14. Caburet S, Demarez A, Moumne L, et al. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet, 2004, 41: 932-936.
15. Albrecht AN, Kornak U, Boddrich A, et al. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet, 2004, 13: 2351-2359.