FOXL2基因新变异导致先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征(Ⅱ型)  

Blepharophimosis, ptosis, and epicanthus inversus syndrome(type II) caused by a novel mutation in FOXL2 gene

作　　者：曾雯 祝建疆 戚红 孟然 蔡莉蓉 闻小慧 ZENG Wen;ZHU Jianjiang;QI Hong;MENG Ran;CAI Lirong;WEN Xiaohui(Prenatal Diagnosis Center of Beijing Haidian District Maternal and Child Health Hospital,Beijing 100080,China)

机构地区：[1]北京市海淀区妇幼保健院产前诊断中心,北京100080

出　　处：《中国优生与遗传杂志》2022年第2期270-274,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的对一睑裂狭小-倒转型内眦赘皮-上睑下垂综合征(BPES)家系进行FOXL2基因突变检测,以明确致病原因,为家系成员生育指导提供依据。方法收集家系中患者5例、表型正常成员3例外周静脉血,提取基因组DNA。应用PCR方法扩增先证者FOXL2基因的整个编码区及侧翼序列,并对其他家庭成员进行突变位点Sanger验证。结果家系中患者均表现出BPES典型临床特征,包括眼睑裂狭小、内眦距过宽、上睑下垂及倒转型内眦赘皮等,FOXL2基因存在c.663_92dup30(p.Ala225_la234dup10)杂合突变。表型正常家庭成员均未携带该突变。结论明确了该家系BPES患者的致病原因为FOXL2基因c.663_92dup30(p.Ala225_la234dup10)杂合突变,为其遗传咨询和生育指导提供了理论依据。该新变异丰富了FOXL2基因突变谱。Objective The purpose of this study was to identify a possible mutations in FOXL2 in a five-generations Chinese families with BPES, in order to provide an appropriate clinical management. Methods Peripheral venous blood was collected from 5 affected patients and 3 normal family members, and genomic DNA was extracted from leukocytes. The whole coding sequence and nearby untranslated region of the FOXL2 gene of the proband were amplified using polymerase chain reaction(PCR), followed by Sanger sequencing analyses of other family members. The sequencing results were analyzed using Chromas software. Results All affected patients presented with clinical features of BPES, including small palpebral fissures,ptosis, telecanthus. A novel FOXL2 heterozygous insert mutation, c.663_692 dup30(p.Ala225_Ala234 dup10) was identified in all affected members of the family. Conclusion A novel FOXL2 mutation was identified in a big Chinese family with BPES type II. Our results expand the spectrum of known FOXL2 mutations and provide a basis for genetic counseling and reproductive guidance.

关 键 词：先天性睑裂狭小-倒转型内眦赘皮-上睑下垂综合征 FOXL2基因 poly-Ala 小睑裂 

分 类 号：R779.6[医药卫生—眼科]