A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

@article{Nallathambi2006ANP,
  title={A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction},
  author={Jeyabalan Nallathambi and Lara Moumn{\'e} and Elfride B. W. De Baere and Diane Beysen and Kim Usha and Periasamy Sundaresan and Reiner A. Veitia},
  journal={Human Genetics},
  year={2006},
  volume={121},
  pages={107-112}
}
The blepharophimosis syndrome (BPES) is an autosomal dominant developmental disorder in which craniofacial/eyelid malformations are associated (type I) or not (type II) with premature ovarian failure (POF). Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES. Heterozygous polyalanine expansions of +10 residues (FOXL2–Ala24) account for 30% of FOXL2 mutations and are fully penetrant for the eyelid phenotype. Here we describe the first… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 24 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 19 references

The other trinucleotide repeat: polyalanine expansion disorders.

Current opinion in genetics & development • 2005
View 3 Excerpts

FOXL2 and BPES: mutational hotspots

E De Baere, D Beysen, +18 authors L Messiaen
2003

Similar Papers

Loading similar papers…