title: A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.
abstract: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease characterized by a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus with or without premature ovarian failure. Mutations in the forkhead transcription factor 2 (FOXL2) have been shown to be responsible for BPES. We performed direct sequencing of the FOXL2 gene for molecular investigation of a Chinese family with BPES. A novel duplication mutation (c.858_868dup), resulting in a truncated protein, was detected.
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Hu
authors.initials: H
authors.lastname: Tan
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Pu
authors.initials: P
authors.lastname: Yang
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Haoxian
authors.initials: H
authors.lastname: Li
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: The State Key Laboratory of Medical Genetics, Central South University , Changsha, China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu