Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9 exons, spanning approximately 24 kb. The analysis of carriers, in addit...

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Bibliographic Details
Main Authors: Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Juliana Josahkian, Roberto Giugliani
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Molecular Biosciences
Subjects:
mosaicism
mucopolysaccharidosis type II
hunter syndrome
next-generation sequencing
IDS gene
x-linked disease
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2021.789350/full

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https://www.frontiersin.org/articles/10.3389/fmolb.2021.789350/full

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