Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human Molecular Genetics

Volumn 10, Issue 15, 2001, Pages 1591-1600

  De Baere, Elfride ^a   Dixon, Michael J ^b   Small, Kent W ^c   Jabs, Ethylin W ^d   Leroy, Bart P ^a   Devriendt, Koenraad ^e   Gillerot, Yves ^f   Mortier, Geert ^a   Meire, Françoise ^a   Van Maldergem, Lionel ^f   Courtens, Winnie ^g   Hjalgrim, Helle ^h   Huang, Shangzhi ⁱ   Liebaers, Inge ^j   Van Regemorter, Nicole ^k   Touraine, Philippe ^l   Praphanphoj, Verayuth ^d   Verloes, Alain ^m   Udar, Nitin ^c   Yellore, Vivek ^c   Chalukya, Meenal ^c   Yelchits, Svetlana ^c   De Paepe, Anne ^a   Kuttenn, Frédérique ^l   Fellous, Marc ⁿ   Veitia, Reiner ⁿ   Messiaen, Ludwine ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c JULES STEIN EYE INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e CENTER FOR HUMAN GENETICS   (Belgium)

^f INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^g Universitair Verplegingscentrum Brugmann UKZKF   (Belgium)

^h JOHN F KENNEDY INSTITUTE   (Denmark)

ⁱ PEKING UNION MEDICAL COLLEGE   (China)

^j UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^k ERASME HOSPITAL   (Belgium)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m UNIVERSITY OF LIÈGE   (Belgium)

ⁿ INSTITUT PASTEUR   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BLEPHAROPHIMOSIS; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DNA FLANKING REGION; EPICANTHUS; EYE DISEASE; EYE MALFORMATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; OVARY DISEASE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PTOSIS;

EID: 0035878536     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.15.1591     Document Type: Article

References (36)

1. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
2. Blepharophimosis sequence and de novo balanced autosomal translocation [46, XY, t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23
3. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
4. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46, XY, t(3;7)(q23;q32)]
5. Molecular cytoǵenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
6. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
7. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
8. Blepharophimosis syndrome is linked to chromosome 3q
9. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23
10. Refined genetic and physical mapping of BPES type II
11. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
12. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
13. Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280 kb interval at chromosome 3q23
14. Closing in on the BPES gene on 3q23: Mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45 kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta′-COP, distal to the breakpoint
15. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
16. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
17. A fork in the road to fertility
18. Five years on the wings of fork head
19. FKHL15, a new human member of the forkhead gene family located on chromosome 9q22
20. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
21. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
22. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
23. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
24. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
25. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
26. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
27. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
28. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
29. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
30. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure
31. [Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family]
32. Nonsense-mediated mRNA decay in health and disease
33. Position effect in human genetic disease
34. Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1
35. C1 inhibitor gene sequence facilitates frameshift mutations
36. Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product