Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease....

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Main Authors: Marcella B. Baptista MSc, Daniel Z. Scherrer PhD, Luciana C. Bonadia PhD, Carlos E. Steiner MD, PhD
Format: Article
Language:English
Published: SciELO 2016-04-01
Series:Journal of Inborn Errors of Metabolism and Screening
Online Access:https://doi.org/10.1177/2326409816643098
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spelling doaj-631f035b71b341689743f8a998ea5a892020-11-24T21:12:38ZengSciELOJournal of Inborn Errors of Metabolism and Screening 2326-45942016-04-01410.1177/232640981664309810.1177_2326409816643098Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 GangliosidosisMarcella B. Baptista MSc0Daniel Z. Scherrer PhD1Luciana C. Bonadia PhD2Carlos E. Steiner MD, PhD3 Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, São Paulo, BrazilGM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C); and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser) and 1 neutral alteration (p.Pro152=) are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype–phenotype correlation is also presented.https://doi.org/10.1177/2326409816643098
collection DOAJ
language English
format Article
sources DOAJ
author Marcella B. Baptista MSc
Daniel Z. Scherrer PhD
Luciana C. Bonadia PhD
Carlos E. Steiner MD, PhD
spellingShingle Marcella B. Baptista MSc
Daniel Z. Scherrer PhD
Luciana C. Bonadia PhD
Carlos E. Steiner MD, PhD
Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
Journal of Inborn Errors of Metabolism and Screening
author_facet Marcella B. Baptista MSc
Daniel Z. Scherrer PhD
Luciana C. Bonadia PhD
Carlos E. Steiner MD, PhD
author_sort Marcella B. Baptista MSc
title Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
title_short Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
title_full Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
title_fullStr Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
title_full_unstemmed Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
title_sort molecular analysis of 9 unrelated families presenting with juvenile and chronic gm1 gangliosidosis
publisher SciELO
series Journal of Inborn Errors of Metabolism and Screening
issn 2326-4594
publishDate 2016-04-01
description GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C); and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser) and 1 neutral alteration (p.Pro152=) are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype–phenotype correlation is also presented.
url https://doi.org/10.1177/2326409816643098
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