A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 554, Issue 1-2, 2004, Pages 19-22

  Qian, Xueqing ^a,b   Shu, Anli ^c   Qin, Wei ^b   Xing, Qinghe ^b   Gao, Jianjun ^a,b   Yang, Jiandong ^a,b   Feng, Guoyin ^a,b   He, Lin ^a,b  

^a Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c HUAIHUA MEDICAL COLLEGE   (China)

Author keywords

3 UTR; BPES; Forkhead transcription factor 2 (FOXL2); Genotype; Mutation; Phenotype

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR 2; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CHINA; CONTROLLED STUDY; CORRELATION ANALYSIS; EPICANTHUS; FOXL2 GENE; GENE; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PTOSIS;

BASE SEQUENCE; CHINA; DNA PRIMERS; DNA-BINDING PROTEINS; EYELID DISEASES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS;

INSERTION SEQUENCES;

EID: 4344654866     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2004.02.014     Document Type: Article

References (12)

1. Amati P., Chomel J.C., Nivelon-Chevalier A., Gilgenkrantz S., Kitzig A., Kaplan J. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum. Genet. 96:1995;213-215
2. Amati P., Gasparini P., Zlotogora J., Zelante L., Chomel J.C., Kitzis A., Kaplan J., Bonneau D. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am. J. Hum. Genet. 58:1996;1089-1092
3. K.W. Small, M. Stalvey, L. Fisher (Eds.), Blepharophimosis syndrome is linked to chromosome 3q, Hum. Mol. Genet. 4 (1995) 443-448.
4. L. Crisponi, M. Deiana, A. Loi (Eds.), The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis-ptosis-epicanthus inversus syndrome, Nat. Genet. 27 (2001) 159-166.
5. E.D. Baere, M.J. Dixon, K.W. Small (Eds.), Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype phenotype correlation, Hum. Mol. Genet. 10 (2001) 1591-1600.
6. Lathrop G.M., Lalouel J.M., White R.L. Construction of human genetic linkage maps: likelihood calculations for multilocus analysis. Genet. Epidemiol. 3:1986;39-52
7. Mendell J.T., Dietz H.C. When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell. 107:2001;411-414
8. Wilusz C.J., Wormington M., Peltz S.W. The cap-to-tail guide to mRNA turnover. Nat. Rev. Mol. Cell Biol. 2:2001;237-246
9. Jean S., Lambert P.F. Integration of human papillomavirus type 16 DNA into the human genome leads to increased stability of E6 and E7 mRNAs: Implications for cervical carcinogenesis. Proc. Natl. Acad. Sci. U.S.A. 92:1995;1654-1658
10. K. Kazuhiro, N. Yutaka, M. Masashi (Eds.), An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy, Nature 394 (1998) 288-292.
11. Gehring N.H., Frede U., Gabriele N.Y., Hundsdoerfer P., Vetter B., Hentze M.W., Kulozik A.E. Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia. Nat. Genet. 28:2001;389-392
12. Muhlrad D., Parker R. Aberrant mRNAs with extended 3′ UTRs are substrates for rapid degradation by mRNA surveillance. RNA. 5:1999;1299-1307