CAJ | 학술논문

目的筛查先天性眼外肌纤维化综合征(CFEOM)伴胼胝体发育不良一家系的致病基因.方法对收集到的先天性眼外肌纤维化综合征伴胼胝体发育不良一家系(3代共11例,其中4例发病)进行临床研究以及头颅和眼眶部的MRI检查；然后采用聚合酶链反应扩增产物直接测序的方法对该家系中4例发病者TUBB3基因进行突变检测,以家系中的4例健康者和100例无血缘关系的正常人作对照.结果该家系符合常染色体显性遗传,分型属于CFEOM3型；家系中的发病者均检测出TUBB3突变c.1249G＞A(p.Asp417Asn),突变位于外显子4,导致野生型基因编码的天冬氨酸(aspartic acid,Asp或D)被天冬酰胺(asparagine,Asn或N)取代.家系中未发病者和无血缘关系的正常人未检出该突变.结论先天性眼外肌纤维化3型伴有胼胝体发育不良的家系成员出现TUBB3基因突变c.1249G＞A(p.Asp417Asn),可能是导致该CFEOM3家系的主要病因.
목적 사사선천성안외기섬유화종합정(CFEOM)반변지체발육불량일가계적치병기인.방법 대수집도적선천성안외기섬유화종합정반변지체발육불량일가계(3대공11례,기중4례발병)진행림상연구이급두로화안광부적MRI검사；연후채용취합매련반응확증산물직접측서적방법대해가계중4례발병자TUBB3기인진행돌변검측,이가계중적4례건강자화100례무혈연관계적정상인작대조.결과 해가계부합상염색체현성유전,분형속우CFEOM3형；가계중적발병자균검측출TUBB3돌변c.1249G＞A(p.Asp417Asn),돌변위우외현자4,도치야생형기인편마적천동안산(aspartic acid,Asp혹D)피천동선알(asparagine,Asn혹N)취대.가계중미발병자화무혈연관계적정상인미검출해돌변.결론 선천성안외기섬유화3형반유변지체발육불량적가계성원출현TUBB3기인돌변c.1249G＞A(p.Asp417Asn),가능시도치해CFEOM3가계적주요병인.
Objective To identify TUBB3 gene mutations in a Chinese family with congenital fibrosis of the extraocular muscle associated with corpus callosum agenesis.Methods We have found a family with CFEOM associated with corpus callosum agenesis,including 4 affected individuals in three generations of 11 familial members.4 affected individuals were sequenced by direct TUBB3 sequencing,4 inaffected individuals in the family and 100 cases of unrelated normal person as a control.Results This family is in line with Mendelian autosomal dominant inheritance.Clinical manifestations belongs to CFEOM3.All affected individuals were detected with TUBB3 c.1249G＞A mutation,the mutation is in exon 4,resulting in wild-type gene encoding the Aspartic acid(Asp or D)replaced.by Asparagine(Asn or N).Conclusion Our study supports that TUBB3 gene mutation c.1249G＞A(p.Asp417Asn),is the underlying molecular pathogenesis of this family with CFEOM3.