[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].
OBJECTIVE
We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for contrast.


METHODS
The FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing.


RESULTS
A 892C > T at nucleotides in FOXL2 was found in the twelve affected patients. No mutations was found in any of the health members in the family.


CONCLUSIONS
FOXL2 may be a important pathogenesis for the disease in this Chinese family.
Tang
Sheng-jian
SJ
Institute of Plastic Surgery, Weifang Medical College, Weifang 261042, China. tsj1950@163.com
Wang
Xiao-ke
XK
Wang
Yan-li
YL
Lin
Li-xin
LX
Sun
Yan
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016569:Blepharophimosis / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013577:Syndrome; D055815:Young Adult
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors