Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Abstract Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

Bibliographic Details
Main Authors:	Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García
Format:	Article
Language:	English
Published:	Wiley 2021-02-01
Series:	Clinical Case Reports
Subjects:	clinical exome sequencing glycosaminoglycans Mucopolysaccharidosis VII prenatal diagnosis Sly syndrome β‐glucuronidase
Online Access:	https://doi.org/10.1002/ccr3.3644

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spelling	doaj-173e37166dd4410fa147addb5eb33fbf2021-02-08T11:42:41ZengWileyClinical Case Reports2050-09042021-02-019279079510.1002/ccr3.3644Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB geneAntonio Miguel Poyatos‐Andújar0Susana García‐Linares1Pilar Carretero2Olga Ocon3Dolores Fresneda4Laura Gort5Francisa Sonia Molina García6UGC de Laboratorios Laboratorio de Genética Hospital Universitario San Cecilio Granada SpainUGC de Laboratorios Laboratorio de Genética Hospital Universitario San Cecilio Granada SpainDepartment of Obstetrics and Gynecology Hospital Universitario San CecilioInstituto de Investigación Biosanitaria IBS Granada SpainDepartment of Obstetrics and Gynecology Hospital Universitario San CecilioInstituto de Investigación Biosanitaria IBS Granada SpainDepartment of Obstetrics and Gynecology Hospital Universitario San CecilioInstituto de Investigación Biosanitaria IBS Granada SpainSecció d'Errors Congènits del Metabolisme ‐IBCServei de Bioquímica i Genètica MolecularHospital ClínicIDIBAPS, CIBERER Barcelona SpainDepartment of Obstetrics and Gynecology Hospital Universitario San CecilioInstituto de Investigación Biosanitaria IBS Granada SpainAbstract Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.https://doi.org/10.1002/ccr3.3644clinical exome sequencingglycosaminoglycansMucopolysaccharidosis VIIprenatal diagnosisSly syndromeβ‐glucuronidase
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Antonio Miguel Poyatos‐Andújar Susana García‐Linares Pilar Carretero Olga Ocon Dolores Fresneda Laura Gort Francisa Sonia Molina García
spellingShingle	Antonio Miguel Poyatos‐Andújar Susana García‐Linares Pilar Carretero Olga Ocon Dolores Fresneda Laura Gort Francisa Sonia Molina García Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene Clinical Case Reports clinical exome sequencing glycosaminoglycans Mucopolysaccharidosis VII prenatal diagnosis Sly syndrome β‐glucuronidase
author_facet	Antonio Miguel Poyatos‐Andújar Susana García‐Linares Pilar Carretero Olga Ocon Dolores Fresneda Laura Gort Francisa Sonia Molina García
author_sort	Antonio Miguel Poyatos‐Andújar
title	Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
title_short	Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
title_full	Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
title_fullStr	Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
title_full_unstemmed	Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
title_sort	prenatal mucopolysaccharidosis vii: a novel pathogenic variant identified in gusb gene
publisher	Wiley
series	Clinical Case Reports
issn	2050-0904
publishDate	2021-02-01
description	Abstract Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
topic	clinical exome sequencing glycosaminoglycans Mucopolysaccharidosis VII prenatal diagnosis Sly syndrome β‐glucuronidase
url	https://doi.org/10.1002/ccr3.3644
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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

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