Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher...

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Autores principales:	G. Drelichman, N. Fernández Escobar, B. Soberon, N. Basack, J. Frabasil, A. Schenone, G. Aguilar, M. Larroudé, J. Knight, D. Zhao, J. Ruan, P.K. Mistry
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Gaucher disease Bone disease Mutation analysis Genotype phenotype correlation Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef0
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spelling	oai:doaj.org-article:98b4f2892f6c4590959c830cdc82cef02021-11-12T04:34:13ZLong-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease2214-426910.1016/j.ymgmr.2021.100820https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef02021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921001154https://doaj.org/toc/2214-4269Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecNciI allele is highly prevalent and associates with severe skeletal manifestations in childhood.G. DrelichmanN. Fernández EscobarB. SoberonN. BasackJ. FrabasilA. SchenoneG. AguilarM. LarroudéJ. KnightD. ZhaoJ. RuanP.K. MistryElsevierarticleGaucher diseaseBone diseaseMutation analysisGenotype phenotype correlationMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100820- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Gaucher disease Bone disease Mutation analysis Genotype phenotype correlation Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Gaucher disease Bone disease Mutation analysis Genotype phenotype correlation Medicine (General) R5-920 Biology (General) QH301-705.5 G. Drelichman N. Fernández Escobar B. Soberon N. Basack J. Frabasil A. Schenone G. Aguilar M. Larroudé J. Knight D. Zhao J. Ruan P.K. Mistry Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
description	Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecNciI allele is highly prevalent and associates with severe skeletal manifestations in childhood.
format	article
author	G. Drelichman N. Fernández Escobar B. Soberon N. Basack J. Frabasil A. Schenone G. Aguilar M. Larroudé J. Knight D. Zhao J. Ruan P.K. Mistry
author_facet	G. Drelichman N. Fernández Escobar B. Soberon N. Basack J. Frabasil A. Schenone G. Aguilar M. Larroudé J. Knight D. Zhao J. Ruan P.K. Mistry
author_sort	G. Drelichman
title	Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
title_short	Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
title_full	Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
title_fullStr	Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
title_full_unstemmed	Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
title_sort	long-read single molecule real-time (smrt) sequencing of gba1 locus in gaucher disease national cohort from argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: collaborative study from the argentine group for diagnosis and treatment of gaucher disease
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/98b4f2892f6c4590959c830cdc82cef0
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Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

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