title: FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.
abstract: Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype-phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype-phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.
authors: Institute of Clinical and Basic Medical Sciences, The First People's Hospital of Yunnan Province (The Kunhua Affiliated Hospital of Kunming Medical College), Kunming 650032, People's Republic of China.
authors: Yan
authors: Y
authors: Xu
authors: Huo
authors: H
authors: Lei
authors: Hong
authors: H
authors: Dong
authors: Liping
authors: L
authors: Zhang
authors: Qionglian
authors: Q
authors: Qin
authors: Jianmei
authors: J
authors: Gao
authors: Yunlian
authors: Y
authors: Zou
authors: Xinmin
authors: X
authors: Yan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016569:Blepharophimosis / Q000150:complications / Q000235:genetics*; D001763:Blepharoptosis / Q000150:complications / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D015233:Models, Statistical; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors