两个Alstrom综合征家系ALMS1基因变异分析及产前诊断  

Analysis of ALMS1 gene mutation and prenatal diagnosis in two pedigrees with Alstrom syndrome

作　　者：苏利沙[1] 刘宁[1] 吴庆华[1] 孔祥东[1] Su Lisa;Liu Ning;Wu Qinghua;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450001,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,郑州450001

出　　处：《中华围产医学杂志》2023年第10期862-864,共3页Chinese Journal of Perinatal Medicine

基　　金：郑州市科技惠民计划(2021KJHM003)。

摘　　要：本研究报道了2个Alstrom综合征家系的遗传学病因,并据此对再次妊娠的胎儿进行产前诊断。这2个家系先证者均存在不同程度视力异常,现先证者母亲均再次妊娠,就诊于郑州大学第一附属医院进行产前诊断。全外显子组测序及Sanger测序验证结果显示,家系1的先证者为ALMS1基因c.6103C>T(p.Gln2035*)和c.6430C>T(p.Arg2144*)复合杂合变异,父母分别为携带者;家系2的先证者为ALMS1基因c.91489149delCT(p.Cys3051Serfs*9)和c.12028delC(p.Leu4010Typfs*19)复合杂合变异,父母分别为携带者;其中c.6103C>T(p.Gln2035*)、c.91489149delCT(p.Cys3051Serfs*9)和c.12028delC(p.Leu4010Typfs*19)均为新发现的变异位点。家系1胎儿携带c.6430C>T(p.Arg2144*)杂合变异,遗传咨询后选择继续妊娠;家系2胎儿与先证者相同,携带c.91489149delCT(p.Cys3051Serfs*9)和c.12028delC(p.Leu4010Typfs*19)复合杂合变异,遗传咨询后孕妇选择终止妊娠。This article reported the genetic etiology of two pedigrees with Alstrom syndrome and the results of prenatal genetic diagnosis in the second pregnancies of the two pedigrees.The probands in the two pedigrees both had different degrees of visual abnormalities.The mothers of the two probands were pregnant again and received prenatal diagnosis in the First Affiliated Hospital of Zhengzhou University.Whole-exome sequencing and Sanger sequencing confirmed that the proband of pedigree 1 carried compound heterozygous variants of c.6103C>T(p.Gln2035*)and c.6430C>T(p.Arg2144*)in ALMS1 gene,and the parents were carriers.While the proband of pedigree 2 was found to carry compound heterozygous variants of c.9148_9149delCT(p.Cys3051Serfs*9)and c.12028delC(p.Leu4010Typfs*19)in ALMS1 gene and the parents were also carriers.Among these variants,c.6103C>T(p.Gln2035*),c.9148_9149delCT(p.Cys3051Serfs*9)and c.12028delC(p.Leu4010Typfs*19)were all de novo ones.Prenatal genetic detection confirmed the fetus of pedigree 1 carried c.6430C>T(p.Arg2144*)variant inherited from the father and the pregnancy was continued after genetic counselling,while the fetus of pedigree 2 was found to carry both of the same variants as the proband and the pregnancy was terminated.

关 键 词：Alstrom综合征 细胞周期蛋白质类 遗传变异 全外显子组测序 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]