Advanced search
Add to list

FOXL2 Mutations and Genomic Rearrangements in BPES

DIANE BEYSEN (UGent) , Anne De Paepe (UGent) and Elfride De Baere (UGent)
(2009) HUMAN MUTATION. 30(2). p.158-169
Author
Organization
Abstract
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal. dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (POF). In addition, a few mutations have been described in patients with isolated POF. Here, we review all currently described FOXL2 sequence variations and genomic rearrangements in BPES and POF. Using a combined mutation detection approach, it is possible to identify the underlying genetic defect in major proportion (88%) of typical BPES patients. Of all genetic defects found in our BPES cohort, intragenic mutations represent 81%. They include missense changes, frame-shift and nonsense mutations, in-frame deletions, and duplications, that are distributed along the single-exon gene. Genomic rearrangements comprising both deletions encompassing FOXL2 and deletions located outside its transcription unit, represent 12% and 5% of all genetic defects in our BPES cohort, respectively. One of the challenges of genetic testing in BPES is the establishment of genotype-phenotype correlations, mainly with respect to the ovarian phenotype. Genetic testing should be performed in the context of genetic counseling, however, and should be systematically complemented by a multidisciplinary clinical follow-up. Another challenge for health care professionals involved in BPES is the treatment of the eyelid phenotype and the prevention or treatment of POF.

Citation

Please use this url to cite or link to this publication:

MLA
BEYSEN, DIANE, Anne De Paepe, and Elfride De Baere. “FOXL2 Mutations and Genomic Rearrangements in BPES.” HUMAN MUTATION 30.2 (2009): 158–169. Print.
APA
BEYSEN, D., De Paepe, A., & De Baere, E. (2009). FOXL2 Mutations and Genomic Rearrangements in BPES. HUMAN MUTATION, 30(2), 158–169.
Chicago author-date
BEYSEN, DIANE, Anne De Paepe, and Elfride De Baere. 2009. “FOXL2 Mutations and Genomic Rearrangements in BPES.” Human Mutation 30 (2): 158–169.
Chicago author-date (all authors)
BEYSEN, DIANE, Anne De Paepe, and Elfride De Baere. 2009. “FOXL2 Mutations and Genomic Rearrangements in BPES.” Human Mutation 30 (2): 158–169.
Vancouver
1.
BEYSEN D, De Paepe A, De Baere E. FOXL2 Mutations and Genomic Rearrangements in BPES. HUMAN MUTATION. 2009;30(2):158–69.
IEEE
[1]
D. BEYSEN, A. De Paepe, and E. De Baere, “FOXL2 Mutations and Genomic Rearrangements in BPES,” HUMAN MUTATION, vol. 30, no. 2, pp. 158–169, 2009.
@article{516088,
  abstract     = {The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal. dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (POF). In addition, a few mutations have been described in patients with isolated POF. Here, we review all currently described FOXL2 sequence variations and genomic rearrangements in BPES and POF. Using a combined mutation detection approach, it is possible to identify the underlying genetic defect in major proportion (88%) of typical BPES patients. Of all genetic defects found in our BPES cohort, intragenic mutations represent 81%. They include missense changes, frame-shift and nonsense mutations, in-frame deletions, and duplications, that are distributed along the single-exon gene. Genomic rearrangements comprising both deletions encompassing FOXL2 and deletions located outside its transcription unit, represent 12% and 5% of all genetic defects in our BPES cohort, respectively. One of the challenges of genetic testing in BPES is the establishment of genotype-phenotype correlations, mainly with respect to the ovarian phenotype. Genetic testing should be performed in the context of genetic counseling, however, and should be systematically complemented by a multidisciplinary clinical follow-up. Another challenge for health care professionals involved in BPES is the treatment of the eyelid phenotype and the prevention or treatment of POF.},
  author       = {BEYSEN, DIANE and De Paepe, Anne and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {2},
  pages        = {158--169},
  title        = {FOXL2 Mutations and Genomic Rearrangements in BPES},
  url          = {http://dx.doi.org/10.1002/humu.20807},
  volume       = {30},
  year         = {2009},
}

Altmetric
View in Altmetric
Web of Science
Times cited: