A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.
- Author:
Wu-xiu LI
1
;
Xiao-ke WANG
;
Yan SUN
;
Yan-li WANG
;
Li-xin LIN
;
Sheng-jian TANG
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Sequence; Base Sequence; Blepharophimosis; genetics; Blepharoptosis; genetics; China; Eyelid Diseases; genetics; Family Health; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; genetics; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Sequence Alignment
- From: Chinese Journal of Medical Genetics 2005;22(4):372-375
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES).
METHODSPCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.
RESULTSA novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins.
CONCLUSIONThese findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported.
