Author:
Zhang Chuan,Hao Shengju,Meng ZhaoYan,Hui Ling,Wang Yan,Xuan Feng,Chen Xue,Wang Xing,Zheng Furong,Zheng Lei,Zhou Bingbo,Wu Xinqi,Zhang Qinghua,Cao Zongfu
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Cited by
2 articles.
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