A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family

Kiehntopf, Michael; Varga, Rita-Eva; Koch, Hans Georg; Beetz, Christian

doi:10.1016/j.gene.2011.12.005

Cited by 7 publications

(2 citation statements)

References 20 publications

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“…This deletion occurs in ~60% of United States and Northern Europe patients [ 93 , 94 ]. A set of additional smaller SVs (from hundreds of base pairs to tens of kb) have been described in single studies (i.e., 13 kb deletion [ 95 ]; 266 bp duplication [ 96 ], deletion of exons 4–5 [ 97 ]; 10 kb deletion [ 98 ]; >1.7 kb deletion [ 99 ]).…”

Section: Svs In Lsdsmentioning

confidence: 99%

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

Cognata¹,

Cavallaro²

2022

Biomedicines

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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.

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Section: Svs In Lsdsmentioning

confidence: 99%

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

Cognata¹,

Cavallaro²

2022

Biomedicines

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“…This gives a theoretical DQ of 1.0 for two NPHP1 copies and 0.5 for a heterozygous deletion [10,12,21,22]. Following the criteria of the MLPA protocol, we considered a DQ value between 0.3 and 0.7 to reflect a heterozygous deletion and a DQ value between 0.7 and 1.3 to reflect a normal copy number [23,24].…”

Section: Quantitative Multiplex Pcr Of Short Fluorescent Fragments (Qmentioning

confidence: 99%

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Jávorszky

Morinière

Kerti

et al. 2017

Clinical Chemistry and Laboratory Medicine (CCLM)

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Cystinosis

Levtchenko

Monnens²

2023

Pediatric Kidney Disease

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A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family

Cited by 7 publications

References 20 publications

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Cystinosis

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