The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
- Author:
Sheng-jian TANG
1
;
Xiao-ke WANG
;
Yan-li WANG
;
Li-xin LIN
;
Yan SUN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; genetics; Blepharophimosis; ethnology; genetics; Child; Child, Preschool; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; genetics; Genotype; Humans; Male; Middle Aged; Mutation; Pedigree; Phenotype; Sequence Analysis, DNA; Syndrome; Young Adult
- From: Chinese Journal of Plastic Surgery 2007;23(1):48-50
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEWe 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.
METHODSThe FOXL2 gene was amplified by polymerase chain reaction and then analyzed by direct genomic sequencing.
RESULTSA 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.
CONCLUSIONSFOXL2 may be a important pathogenesis for the disease in this Chinese family.
