CAJ | 학술논문

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.
목적 대5례선천성소검렬종합정(BPES)환자행유전학분석,탐토기인형여표형적관계.방법 종합응용핵형분석、형광원위잡교(FISH)、단핵감산다태성미진렬(SNP array)、취합매련반응급DNA측서기술대1례BPES반지력장애화4례단순BPES환자행FOXL2기인결실화돌변분석.결과 BPES반지력장애환자염색체3q22.1-q23존재포함FOXL2기인재내약9.4 Mb적잡합성결실;례2화례3환자FOXL2기인존재c.704delG잡합돌변,이보도해돌변병례적림상표형위Ⅰ형BPES,단례3림상표현위Ⅱ형BPES;례4화례5미검측도돌변.결론 염색체3q22.1-q23가능존재도치지력장애적상관기인;FOXL2기인c.704delG잡합돌변(표체절단단백)가도치Ⅰ화Ⅱ형BPES.
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.