FOXL2-mutations in blepharophimosis-ptosis - Epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

American Journal of Medical Genetics

Volumn 117 A, Issue 2, 2003, Pages 143-146

  Fokstuen, Siv ^a   Antonarakis, Stylianos E ^a   Blouin, Jean Louis ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Blepharophimosis ptosis epicanthus inversus syndrome; Female fertility; FOXL2; Genetic counseling

Indexed keywords

DNA; FOXL2 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; FOXL2 PROTEIN, HUMAN;

ADULT; ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; DNA SEQUENCE; EPICANTHUS; EPICANTHUS INVERSUS; EYELID DISEASE; FEMALE; FEMALE FERTILITY; FORKHEAD TRANSCRIPTION FACTOR GENE 2; FOXL2 GENE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC COUNSELING; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; AMINO ACID SEQUENCE; CHEMISTRY; CONGENITAL MALFORMATION; EYELID; GENE EXPRESSION REGULATION; GENETICS; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SYNDROME;

GENETTA;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC COUNSELING; HUMANS; MUTAGENESIS, INSERTIONAL; MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0041778256     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10024     Document Type: Article

References (14)

1. Bell R, Murday VA, Patton MA, Jeffery S. 2001. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. Genet Test 5:335-338.
2. Clinical Genetics Society. 1995. The genetic testing of children. Report of a working party of the clinical genetics society. J Med Genet 31:785-797.
3. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi S, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. 2001. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/ epicanthus inversus syndrome. Nat Genet 27:159-166.
4. De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. 2001. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet 10:1591-1600.
5. Fraser IS, Shearman RP, Smith A, Russell P. 1988. An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril 50:747-751.
6. Jones CA, Collin JR. 1984. Blepharophimosis and its association with female infertility. Br J Ophthalmol 68:533-534.
7. Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. 2002. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet 23:43-47.
8. Moraine C, Titeca C, Delplace MP, Grenier B, Lenoel Y, Ribadeau-Dumas JL. 1976. Familial blepharophimosis and female sterility: pleiotropism or linked genes? J Genet Hum 24(Suppl):125-132.
9. Morales M, Chardonnens D, Bottani A, Gersbach-Forrer M, Campana A. 1999. Blepharophimosis-ptosis-epicanthus inversus associated with infertility. J Gynecol Obstet Biol Reprod 28:833-8337.
10. Oley C, Baraitser M. 1988. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 25:47-51.
11. Panidis D, Rousso D, Vavilis D, Skiadopoulos S, Kalogeropoulos A. 1994. Familial blepharophimosis with ovarian dysfunction. Hum Reprod 9:2034-2037.
12. Townes PL, Muechler EK. 1979. Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait. Arch Ophthalmol 97:1664-1666.
13. Yamada T, Hayasaka S, Budu MM, Esa T, Hayasaka Y, Endo M. 2001. Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. J Hum Genet 46:733-736.
14. Zlotogora J, Sagi M, Cohen T. 1983. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35:1020-1027.