title: FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
abstract: Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding a forkhead transcription factor, have recently been shown to cause both types of BPES. Here, we report 1 novel duplication mutation of the FOXL2 gene identified in a large Chinese family affected by type II BPES and 1 less recurrent 17-bp duplication in a large Chinese family affected by BPES of an undetermined type. These new cases give additional support to the previously reported genotype-phenotype correlations and our findings have expanded the spectrum of known mutations of the FOXL2 gene.
authors.affiliation: Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, China.
authors.forename: Jia-Yan
authors.initials: JY
authors.lastname: Fan
authors.forename: Ye-Fei
authors.initials: YF
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.forename: Yong-Rong
authors.initials: YR
authors.lastname: Ji
authors.forename: Huai-Dong
authors.initials: HD
authors.lastname: Song
authors.forename: Xian-Qun
authors.initials: XQ
authors.lastname: Fan
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005784:Gene Amplification; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008594:Menopause, Premature / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D010375:Pedigree; D012016:Reference Values; D012868:Skin Abnormalities / Q000235:genetics
chemical_list: D017931:DNA Primers; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D004247:DNA