Estimated prevalence of Niemann–Pick type C disease in Quebec

Abstract Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose. In adults, symptoms appear mainly in the form of psychiatric problems. The pre...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7b7034c9c309436abaf075521380d279
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:7b7034c9c309436abaf075521380d279
record_format	dspace
spelling	oai:doaj.org-article:7b7034c9c309436abaf075521380d2792021-11-21T12:23:57ZEstimated prevalence of Niemann–Pick type C disease in Quebec10.1038/s41598-021-01966-02045-2322https://doaj.org/article/7b7034c9c309436abaf075521380d2792021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01966-0https://doaj.org/toc/2045-2322Abstract Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose. In adults, symptoms appear mainly in the form of psychiatric problems. The prevalence varies from 0.35 to 2.2 per 100,000 births depending on the country. The aim of this study is to calculate the estimated prevalence of NP-C in Quebec to determine if it is underdiagnosed in this population. The CARTaGENE database is a unique database that regroups individuals between 40 and 69 years old from metropolitan regions of Quebec. RNA-sequencing data was available for 911 individuals and exome sequencing for 198 individuals. We used a bioinformatic pipeline on those individuals to extract the variants in the NPC1/2 genes. The prevalence in Quebec was estimated assuming Hardy–Weinberg Equilibrium. Two pathogenic variants were used. The variant p.Pro543Leu was found in three heterozygous individuals that share a common haplotype, which suggests a founder French-Canadian pathogenic variant. The variant p.Ile1061Thr was found in two heterozygous individuals. Both variants have previously been reported and are usually associated with infantile onset. The estimated prevalence calculated using those two variants is 0.61:100,000 births. This study represents the first estimate of NP-C in Quebec. The estimated prevalence for NP-C is likely underestimated due to misdiagnosis or missed cases. It is therefore important to diagnose all NP-C patients to initiate early treatment.Marjorie LabrecqueLahoud ToumaClaude BhérerAntoine DuquetteMartine TétreaultNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marjorie Labrecque Lahoud Touma Claude Bhérer Antoine Duquette Martine Tétreault Estimated prevalence of Niemann–Pick type C disease in Quebec
description	Abstract Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose. In adults, symptoms appear mainly in the form of psychiatric problems. The prevalence varies from 0.35 to 2.2 per 100,000 births depending on the country. The aim of this study is to calculate the estimated prevalence of NP-C in Quebec to determine if it is underdiagnosed in this population. The CARTaGENE database is a unique database that regroups individuals between 40 and 69 years old from metropolitan regions of Quebec. RNA-sequencing data was available for 911 individuals and exome sequencing for 198 individuals. We used a bioinformatic pipeline on those individuals to extract the variants in the NPC1/2 genes. The prevalence in Quebec was estimated assuming Hardy–Weinberg Equilibrium. Two pathogenic variants were used. The variant p.Pro543Leu was found in three heterozygous individuals that share a common haplotype, which suggests a founder French-Canadian pathogenic variant. The variant p.Ile1061Thr was found in two heterozygous individuals. Both variants have previously been reported and are usually associated with infantile onset. The estimated prevalence calculated using those two variants is 0.61:100,000 births. This study represents the first estimate of NP-C in Quebec. The estimated prevalence for NP-C is likely underestimated due to misdiagnosis or missed cases. It is therefore important to diagnose all NP-C patients to initiate early treatment.
format	article
author	Marjorie Labrecque Lahoud Touma Claude Bhérer Antoine Duquette Martine Tétreault
author_facet	Marjorie Labrecque Lahoud Touma Claude Bhérer Antoine Duquette Martine Tétreault
author_sort	Marjorie Labrecque
title	Estimated prevalence of Niemann–Pick type C disease in Quebec
title_short	Estimated prevalence of Niemann–Pick type C disease in Quebec
title_full	Estimated prevalence of Niemann–Pick type C disease in Quebec
title_fullStr	Estimated prevalence of Niemann–Pick type C disease in Quebec
title_full_unstemmed	Estimated prevalence of Niemann–Pick type C disease in Quebec
title_sort	estimated prevalence of niemann–pick type c disease in quebec
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/7b7034c9c309436abaf075521380d279
work_keys_str_mv	AT marjorielabrecque estimatedprevalenceofniemannpicktypecdiseaseinquebec AT lahoudtouma estimatedprevalenceofniemannpicktypecdiseaseinquebec AT claudebherer estimatedprevalenceofniemannpicktypecdiseaseinquebec AT antoineduquette estimatedprevalenceofniemannpicktypecdiseaseinquebec AT martinetetreault estimatedprevalenceofniemannpicktypecdiseaseinquebec
_version_	1718419074401173504

Estimated prevalence of Niemann–Pick type C disease in Quebec

Ejemplares similares