Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+ 0" genotype
10.3760/cma.j.cn511374-20221109-00777
- VernacularTitle:脊髓性肌萎缩症2＋0型案例分析与胚胎植入前单基因病检测的临床应用
- Author:
Shaoying LI
1
;
Jianchun HE
;
Wenzhi HE
;
Jiajia XIAN
;
Lingling HUANG
;
Gengye ZHAO
;
Xin ZHANG
;
Renqian DU
;
Liming CHU
;
Yueqiang WANG
;
Lingyin KONG
;
Bo LIANG
;
Qing LI
Author Information
1. 广州医科大学附属第三医院妇产科/妇产科研究所实验部/广东省产科重大疾病重点实验室；广东省妇产疾病临床医学研究中心；粤港澳母胎医学高校联合实验室，广州 510150
- Keywords:
Mmuscular atrophy, spinal;
SMN1 gene;
Preimplantation genetic testing for monogenic disorders;
Next generation sequencing;
Linkage analysis;
Microarra
- From:
Chinese Journal of Medical Genetics
2024;41(3):294-299
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+ 0.Methods:A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. Results:The female partner was identified as a carrier of the rare SMN1[2+ 0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. Conclusion:PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+ 0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.
