Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene.
10.3760/cma.j.cn511374-20210519-00427
- Author:
Ganye ZHAO
1
;
Chen CHEN
;
Xuechao ZHAO
;
Lina LIU
;
Conghui WANG
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdgene@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Exons;
Female;
Humans;
Male;
Mucopolysaccharidosis II/genetics*;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis/methods*
- From:
Chinese Journal of Medical Genetics
2022;39(8):864-867
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a patient with mucopolysaccharidosis type II (MPSII).
METHODS:The IDS gene of the proband and his mother was detected by Sanger sequencing, agarose gel electrophoresis, real-time PCR and multiple ligation-dependent probe amplification (MLPA). Prenatal diagnosis was performed on amniotic fluid sample.
RESULTS:Agarose gel electrophoresis, real-time PCR, and MLPA all showed that exon 2 of IDS gene of the proband was deleted, for which his mother was normal. Prenatal diagnosis showed that the fetus was a normal male.
CONCLUSION:The de novo deletion of exon 2 of the IDS gene probably underlay the MPSII in this patient. Above finding has broadened the mutation spectrum of the IDS gene. The combined methods for the detection of IDS gene mutations could make accurate prenatal diagnosis for MPSII.
