Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

Chuan Zhang, Shengju Hao, Zhao Yan Meng, Ling Hui, Yan Wang, Feng Xuan, Xue Chen, Xing Wang, Furong Zheng, Lei Zheng, Bingbo Zhou, Xinqi Wu, Qinghua Zhang, Zongfu Cao

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Background: Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported. Methods: We undertook a detailed pedigree analysis of four patients within the same family by targeted next-generation sequencing and Sanger sequencing. Results: We identified a novel heterozygous frameshift variant, c.1224delC(p.Pro408ProfsTer31), of IDS in three patients. We defined c.1224delC as a pathogenic variant according to the 2015 guidelines set by the American College of Medical Genetics and Genomics. Conclusion: We reported the second Chinese female MPS II patient. We helped to ensure that these two families had healthy babies. Our findings have enlarged the mutational spectrum of IDS, and these findings could be useful for genetic counseling and the prenatal diagnosis of MPS II.

Original languageEnglish
Article number175
JournalBMC Medical Genomics
Volume14
Issue number1
DOIs
StatePublished - Dec 2021
Externally publishedYes

Keywords

  • Developmental delay
  • IDS
  • MPS II
  • Skeletal malformation
  • Special face

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