中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
Chinese Journal of Medical Genetics
2015年
4期
502-505
,共4页
郭丽%林伟霞%张占会%赵新景%张穗%蔡香然%周清%宋元宗
郭麗%林偉霞%張佔會%趙新景%張穗%蔡香然%週清%宋元宗
곽려%림위하%장점회%조신경%장수%채향연%주청%송원종
糖原累积症%糖原脱支酶%AGL基因%突变%复合杂合子%球后视神经炎
糖原纍積癥%糖原脫支酶%AGL基因%突變%複閤雜閤子%毬後視神經炎
당원루적증%당원탈지매%AGL기인%돌변%복합잡합자%구후시신경염
Glycogen storage disease%Glycogen debranching enzyme%AGL gene%Mutation%Compound Heterozygous%Retrobulbar optic neuritis
目的 探讨一个糖原累积症Ⅲa型家系的临床及AGL基因突变的特点.方法 收集患儿的诊断、治疗和随访资料,分析其临床特点.提取患儿及其父母外周血DNA,用聚合酶链式反应扩增AGL基因的全部外显子及侧翼序列,通过直接测序寻找致病突变.结果 AGL基因型为c.3710_3711delTA/ⅣS14+1G＞T,前者为来自于母亲,尚未见于报道;后者为来自于父亲的剪接位点突变.结论 综合其临床及分子生物学特点,该患儿被诊断为糖原累积症Ⅲa型合并球后视神经炎.
目的 探討一箇糖原纍積癥Ⅲa型傢繫的臨床及AGL基因突變的特點.方法 收集患兒的診斷、治療和隨訪資料,分析其臨床特點.提取患兒及其父母外週血DNA,用聚閤酶鏈式反應擴增AGL基因的全部外顯子及側翼序列,通過直接測序尋找緻病突變.結果 AGL基因型為c.3710_3711delTA/ⅣS14+1G＞T,前者為來自于母親,尚未見于報道;後者為來自于父親的剪接位點突變.結論 綜閤其臨床及分子生物學特點,該患兒被診斷為糖原纍積癥Ⅲa型閤併毬後視神經炎.
목적 탐토일개당원루적증Ⅲa형가계적림상급AGL기인돌변적특점.방법 수집환인적진단、치료화수방자료,분석기림상특점.제취환인급기부모외주혈DNA,용취합매련식반응확증AGL기인적전부외현자급측익서렬,통과직접측서심조치병돌변.결과 AGL기인형위c.3710_3711delTA/ⅣS14+1G＞T,전자위래자우모친,상미견우보도;후자위래자우부친적전접위점돌변.결론 종합기림상급분자생물학특점,해환인피진단위당원루적증Ⅲa형합병구후시신경염.
Objective To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type Ⅲa (GSD Ⅲ a).Methods Clinical data for diagnosis,treatment and follow-up of a sick child with GSD Ⅲ was collected and analyzed.Genomic DNA was extracted from the peripheral blood samples from the patient and his parents.Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.Results The genotype of the child was found to be c.3710_3711delTA/ⅣS14 + 1G＞T.The former was a maternally-inherited mutation,which has not been reported previously.The latter was an abnormal splice-site mutation inherited from the father.Conclusion Based on its clinical and molecular evidences,the patient was diagnosed as GSD Ⅲ a in conjunction with retrobular optic neuritis.
