Analysis of ALMS1 gene mutation and prenatal diagnosis in two pedigrees with Alstrom syndrome
10.3760/cma.j.cn113903-20231018-00265
- VernacularTitle:两个Alstrom综合征家系 ALMS1基因变异分析及产前诊断
- Author:
Lisa SU
1
;
Ning LIU
;
Qinghua WU
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450001
- Keywords:
Alstrom syndrome;
Cell cycle proteins;
Genetic variation;
Whole exome sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2023;26(10):862-864
- CountryChina
- Language:Chinese
-
Abstract:
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.
