Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.
CNVs
diagnosis
lysosomal storage diseases
structural variants
tNGS
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
29 Jul 2022
29 Jul 2022
Historique:
received:
17
06
2022
revised:
22
07
2022
accepted:
26
07
2022
entrez:
26
8
2022
pubmed:
27
8
2022
medline:
27
8
2022
Statut:
epublish
Résumé
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard for diagnosis of symptomatic patients, genotyping is a requirement for inclusion in enzyme replacement programs and is a prerequisite for carrier tests in relatives and DNA-based prenatal diagnosis. The emerging next-generation sequencing (NGS) technologies are now offering a powerful diagnostic tool for genotyping LSDs patients by providing faster, cheaper, and higher-resolution testing options, and are allowing to unravel, in a single integrated workflow SNVs, small insertions and deletions (indels), as well as major structural variations (SVs) responsible for the pathology. Here, we summarize the current knowledge about the most recurrent and private SVs involving LSDs-related genes, review advantages and drawbacks related to the use of the NGS in the SVs detection, and discuss the challenges to bring this type of analysis in clinical diagnostics.
Identifiants
pubmed: 36009380
pii: biomedicines10081836
doi: 10.3390/biomedicines10081836
pmc: PMC9405548
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : Sanofi (Italy)
ID : Joint project between IRIB-CNR and SANOFI (project n. 2018/9848)
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