先天性小睑裂综合征FOXL2基因缺失和突变分析  

Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome

作　　者：周仲民[1] 梁德生[1] 全意[1] 薛晋杰[1] 李红艳[1] 夏晓波[2] 邬玲仟[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室,长沙410078 [2]中南大学湘雅医院眼科

出　　处：《中华眼科杂志》2010年第6期532-536,共5页Chinese Journal of Ophthalmology

基　　金：十一五国家科技支撑计划课题（2006BAI05A08）;国家自然科学基金（30571021）

摘　　要：目的 对5例先天性小睑裂综合征（BPES）患者行遗传学分析,探讨基因型与表型的关系.方法 综合应用核型分析、荧光原位杂交（FISH）、单核苷酸多态性微阵列（SNP array）、聚合酶链反应及DNA测序技术对1例BPES伴智力障碍和4例单纯BPES患者行FOXL2基因缺失和突变分析.结果 BPES伴智力障碍患者染色体3q22.1-q23存在包含FOXL2基因在内约9.4 Mb的杂合性缺失;例2和例3患者FOXL2基因存在c.704delG杂合突变,已报道该突变病例的临床表型为Ⅰ型BPES,但例3临床表现为Ⅱ型BPES;例4和例5未检测到突变.结论 染色体3q22.1-q23可能存在导致智力障碍的相关基因;FOXL2基因c.704delG杂合突变（表达截短蛋白）可导致Ⅰ和Ⅱ型BPES.Objective To perform genetic analysis in 5 patients with blepharophimosis-ptosis-epicanthus inversus syndrome（BPES）and refine the genotype-phenotype correlation.Methods G-band karyotyping,fluorescent in situ hybridization（FISH）,SNP array,PCR and sequencing techniques were performed to one patient with BPES and mental retardation and 4 only with BPES.Results Patient 1 with mental retardation carried a 9.4 Mb heterozygous deletion in chromosome 3q22.1-q23 including FOXL2 gene;Both patient 2 and 3 carried a c.704delG heterozygous mutation of FOXL2,while they were assigned to the different clinical type from those reported previously.Patient 3 was assigned to type Ⅱ BPES;Nomutation of FOXL2 Was detected in patient 4 and 5.Conclusions There might be the gene（s）responsible for mental retardation within chromosome 3q22.1-q23.It Was indicated that the mutation c.704delG in FOXL2 led to a truncated protein is associated with beth type Ⅰ and Ⅱ of BPES.

关 键 词：睑裂狭小 叉头转录因子类 突变 多态性 单核苷酸 精神发育迟滞 

分 类 号：R771.1[医药卫生—眼科]