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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil
Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut(0) methylmalonic acidemia (mut(0) MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CT...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7380325/ https://www.ncbi.nlm.nih.gov/pubmed/32706845 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0298 |
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author | Randon, Dévora N. Sperb-Ludwig, Fernanda Vianna, Fernanda S. L. Becker, Ana P. P. Vargas, Carmen R. Sitta, Angela Sant’Ana, Alexia N. Schwartz, Ida V. D. de Bitencourt, Fernanda H. |
author_facet | Randon, Dévora N. Sperb-Ludwig, Fernanda Vianna, Fernanda S. L. Becker, Ana P. P. Vargas, Carmen R. Sitta, Angela Sant’Ana, Alexia N. Schwartz, Ida V. D. de Bitencourt, Fernanda H. |
author_sort | Randon, Dévora N. |
collection | PubMed |
description | Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut(0) methylmalonic acidemia (mut(0) MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut(0) MMA, MUT gene). Considering the absence of estimates regarding the incidence of these diseases in Brazil, this study sought to investigate the prevalence of its main pathogenic variants in a healthy population in the southern region of the country. A total of 1,000 healthy subjects from Rio Grande do Sul were included. Genotyping was performed by real-time PCR. Individuals found to be heterozygous for c.1528G>C underwent further acylcarnitine profile analysis by tandem mass spectrophotometry. Allele and genotype frequencies were calculated considering Hardy-Weinberg equilibrium. The c.1528G>C variant was detected in heterozygosity in two subjects (carrier frequency = 1:500; allele frequency = 0.001; minimum prevalence of LCHADD = 1: 1,000,000), whose acylcarnitine profiles were normal. Variants c.1168G>A, c.655A>T, and c.1106G>A were not identified. These results denote the rarity of these IEMs in Southern Brazil, highlighting the need to expand the investigation of IEMs in relation to infant morbidity and mortality within the country. |
format | Online Article Text |
id | pubmed-7380325 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-73803252020-07-31 Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil Randon, Dévora N. Sperb-Ludwig, Fernanda Vianna, Fernanda S. L. Becker, Ana P. P. Vargas, Carmen R. Sitta, Angela Sant’Ana, Alexia N. Schwartz, Ida V. D. de Bitencourt, Fernanda H. Genet Mol Biol Human and Medical Genetics Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut(0) methylmalonic acidemia (mut(0) MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut(0) MMA, MUT gene). Considering the absence of estimates regarding the incidence of these diseases in Brazil, this study sought to investigate the prevalence of its main pathogenic variants in a healthy population in the southern region of the country. A total of 1,000 healthy subjects from Rio Grande do Sul were included. Genotyping was performed by real-time PCR. Individuals found to be heterozygous for c.1528G>C underwent further acylcarnitine profile analysis by tandem mass spectrophotometry. Allele and genotype frequencies were calculated considering Hardy-Weinberg equilibrium. The c.1528G>C variant was detected in heterozygosity in two subjects (carrier frequency = 1:500; allele frequency = 0.001; minimum prevalence of LCHADD = 1: 1,000,000), whose acylcarnitine profiles were normal. Variants c.1168G>A, c.655A>T, and c.1106G>A were not identified. These results denote the rarity of these IEMs in Southern Brazil, highlighting the need to expand the investigation of IEMs in relation to infant morbidity and mortality within the country. Sociedade Brasileira de Genética 2020-07-24 /pmc/articles/PMC7380325/ /pubmed/32706845 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0298 Text en Copyright © 2020, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited. |
spellingShingle | Human and Medical Genetics Randon, Dévora N. Sperb-Ludwig, Fernanda Vianna, Fernanda S. L. Becker, Ana P. P. Vargas, Carmen R. Sitta, Angela Sant’Ana, Alexia N. Schwartz, Ida V. D. de Bitencourt, Fernanda H. Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil |
title | Prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south Brazil |
title_full | Prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south Brazil |
title_fullStr | Prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south Brazil |
title_full_unstemmed | Prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south Brazil |
title_short | Prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south Brazil |
title_sort | prevalence of the most common pathogenic variants in three genes for
inborn errors of metabolism associated with sudden unexpected death in infancy:
a population-based study in south brazil |
topic | Human and Medical Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7380325/ https://www.ncbi.nlm.nih.gov/pubmed/32706845 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0298 |
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