Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome.
10.3760/cma.j.cn511374-20200310-00152
- Author:
Yuping NIU
1
;
Xiaowei CHEN
;
Jie LI
;
Sexin HUANG
;
Peiwen XU
;
Yuan GAO
Author Information
1. Center for Reproductive Medicine , National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong 250001, China. gaoyuan@sduivf.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(9):968-971
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT).
METHODS:All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay.
RESULTS:The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene.
CONCLUSION:Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis.
