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

European Journal of Endocrinology

Volumn 153, Issue 3, 2005, Pages 353-358

  Raile, Klemens ^a   Stobbe, H ^a   Trobs R B ^a   Kiess, W ^a   Pfaffle R ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ESTRADIOL; GONADOTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; ALLELE; AMENORRHEA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CLINICAL FEATURE; CORPUS LUTEUM; ESTRADIOL BLOOD LEVEL; EYELID DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GONADOTROPIN BLOOD LEVEL; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; LAPAROTOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OLIGOMENORRHEA; OVARY CYST; OVARY FUNCTION; OVARY INSUFFICIENCY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PTOSIS; RISK ASSESSMENT; RISK FACTOR;

ADOLESCENT; BASE SEQUENCE; BLEPHAROPHIMOSIS; DNA-BINDING PROTEINS; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; LUTEINIZING HORMONE; MOLECULAR SEQUENCE DATA; MUTATION; OVARIAN CYSTS; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 26244461936     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.01974     Document Type: Article

References (22)

1. Zlotogora J, Sagi M & Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. American Journal of Human Genetics 1983 35 1020-1027.
2. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Can A & Pilia G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genetics 2001 27 159-166.
3. Carlsson P & Mahlapuu M. Forkhead transcription factors: key players in development and metabolism. Developmental Biology 2002 250 1-23.
4. Loffler KA, Zarkower D & Koopman P. Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology 2003 144 3237-3243.
5. Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, Treier AC & Treier M. The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 2004 131 933-942.
6. Pisarska MD, Bae J, Klein C & Hsueh AJW. Forkhead L2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene. Endocrinology 2004 145 3424-3433.
7. Sullivan SA, Akers L & Moody SA. FoxD5a, a Xenopus winged helix gene, maintains an immature neural ectoderm via transcriptional repression that is dependent on the C-terminal domain. Developmental Biology 2001 232 439-457.
8. Sutton J, Costa R, Klug M, Field L, Xu D, Largaespada DA, Fletcher CF, Jenkins NA, Copeland NG, Klemsz M & Hromas R. Genesis, a winged helix transcriptional repressor with expression restricted to embryonic stem cells. Journal of Biological Chemistry 1996 271 23126-23133.
9. Fokstuen S, Antonarakis SE & Blouin JL. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): Challenges for genetic counseling in female patients. American Journal of Medical Genetics 2003 117 143-146.
10. Udar N, Yellore V, Chalukya M, Yelchits S, Silva-Garcia R & Small K. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. Human Mutation 2003 22 222-228.
11. Clement PB & Scully RE. Large solitary luteinized follicle cyst of pregnancy and puerperium: A clinicopathological analysis of eight cases. American Journal of Surgical Pathology 1980 4 431-438.
12. Haddad A, Mulvany N, Billson V & Arnstein M. Solitary luteinized follicle cyst of pregnancy. Report of a case with cytologic findings. Acta Cytologica 2000 44 454-458.
13. Nelson LM, Anasti JN, Kimzey LM, Defensor RA, Lipetz KJ, White BJ, Shawker TH & Merino MJ. Development of luteinized Graafian follicles in patients with karyotypically normal spontaneous premature ovarian failure. Journal of Clinical Endocrinology and Metabolism 1994 79 1470-1475.
14. 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. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Human Molecular Genetics 2001 10 1591-1600.
15. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp, A, Van Maldergem L, De Paepe A, Veitia R & Messiaen L. FOXL2 PES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. American Journal of Human Genetics 2003 72 478-487.
16. Ramirez-Castro JL, Pineda-Trujillo N, Valencia AV, Muneton CM, Botero O, Trujillo O, Vasquez G, Mora BE, Durango N, Bedoya G & Ruiz-Linares A. Mutations in FOXL2 underlying BPES (Types 1 and 2) in Colombian families. American Journal of Medical Genetics 2002 113 47-51.
17. Rebar RW & Connolly HV. Clinical features of young women with hypergonadotropic amenorrhea. Fertility and Sterility 1990 53 804-810.
18. Cocquet J, De Baere E, Gareil M, Pannefier M, Xia X, Fellous M & Veitia RA. Structure, evolution and expression of the FOXL2 transcription unit. Cytogenetic and Genome Research 2003 101 206-211.
19. Cocquet J, De Baere E, Caburet S & Veitia RA. Compositional biases and polyalanine runs in humans. Genetics 2003 165 1613-1617.
20. Caburet S, Demarez A, Moumne L, Fellous M, De Baere E & Veitia RA. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. Journal of Medical Genetics 2004 41 932-936.
21. Forman MS, Trojanowski JQ & Lee VM. Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs. Nature Medicine 2004 10 1055-1063.
22. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY & Orr HT. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997 389 971-974.