一先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征家系FOXL2基因的突变检测

目的对一先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征(BPES)家系进行FOXL2基因突变筛查,以确定其致病基因。方法抽取先天性BPES家系患者、患者家族成员及正常对照者外周静脉血,提取基因组DNA,PCR扩增,纯化后直接测序检测FOXL2基因的外显子及其与内含子交界处序列,DNAStar软件分析测序结果。结果在该家系患者中检测到C.578A>G错义突变,该突变导致193位氨基酸残基由赖氨酸突变为精氨酸。而家系中的正常人及100例正常对照者的FOXL2基因中均未发现突变。结论FOXL2基因C.578A>G错义突变使赖氨酸突变为精氨酸,导致蛋白质的改变,这可能是该家系BPES的致病原因。

The FOXL2 gene mutation screening of a family with congenital blepharophimosis-ptosis-epicanthus inversus syndrome

Objective To screen the FOXL2 gene in a family with congenital blepharophimosis-ptosis-epicanthus inversus syndrome(BPES),to determine the disease-causing gene.Methods Genomic DNA was extracted from the peripheral blood from the BPES patients,the relatives of the families and normal controls.The exon of the gene was amplified by polymerase chain reaction(PCR).The mutation of FOXL2 was screened by direct sequencing of the PCR products.The sequencing results were analyzed by DNAStar software.Results A missense mutation(C.578A > G) in FOXL2 had been detected,which caused lysine mutated into arginine at position 193.However,the variant was not found either in the non-carrier relatives or in 100 normal controls.Conclusion C.578A > G missense mutation of FOXL2 may change the protein by substituting arginine from lysine.It is likely to be the causes of the BPES in the family.