1个甲基丙二酸血症家系的遗传学分析及产前诊断  

Genetic analysis and prenatal diagnosis of a pedigree with methylmalonic acidemia

作　　者：霍晓溪 姜文 金叶 张文晶 董彤 刘阳 卢彦平 Huo Xiaoxi;Jiang Wen;Jin Ye;Zhang Wenjing;Dong Tong;Liu Yang;Lu Yanping(Department of Obstetrics and Gynecology,the Seventh Medical Center,Chinese PLA General Hospital,Beijing 100700,China)

机构地区：[1]中国人民解放军总医院第七医学中心妇产医学部,北京100700

出　　处：《中华围产医学杂志》2023年第11期960-963,共4页Chinese Journal of Perinatal Medicine

摘　　要：本文报道1个家系既往2次足月分娩活男婴,新生儿均无窒息,但分别于生后第5天和第13天死亡,父母染色体核型分析均未见异常。详细了解既往2个新生儿的临床表现及相关检测结果,对新生儿2保留的干血片进行全外显子组测序,发现甲基丙二酰辅酶A变位酶基因(NM_000255)c.729_730insTT纯合变异(p.D244Lfs*39),明确新生儿2为甲基丙二酸血症。本次妊娠孕20周^(+3)行羊膜腔穿刺,行羊水Sanger测序,提示胎儿存在与新生儿2相同的纯合变异,生后表型应与新生儿2相同,为甲基丙二酸血症患儿,遂于孕24周引产终止妊娠。This article reports a pedigree with two previously deceased neonates.Both neonates did not experience asphyxia but passed away on their 5th and 13th day of life.The chromosomal analysis of the parents'karyotype revealed no abnormalities.Clinical manifestations of the two deceased cases and relevant medical records were recollected.Whole exome sequencing was conducted on the stem blood sample of Neonate 2,revealing a c.729_730insTT homozygous mutation(p.D244Lfs*39)in the methylmalonyl-CoA mutase gene(NM_000255).It was confirmed that Neonate 2 was affected with methylmalonic acidemia.Amniocentesis was performed at 20^(+3) weeks in the current pregnancy.Sanger sequencing of amniotic fluid indicated that the fetus carried the same gene mutation as Neonate 2.Consequently,the fetus was expected to be a patient with methylmalonic acidemia and to exhibit the same phenotype as Neonate 2.Termination of pregnancy,therefore,was selected at 24 weeks of gestation.

关 键 词：氨基酸代谢障碍 先天性 甲基丙二酸单酰CoA变位酶 遗传变异 产前诊断 全外显子组 

分 类 号：R714.5[医药卫生—妇产科学]