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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Joint Authors
Høyer, Helle
Hilmarsen, Hilde T.
Holla, Øystein L.
Busk, Øyvind L.
Skjelbred, Camilla F.
Braathen, Geir J.
Russell, Michael B.
Strand, Linda
Svendsen, Marit
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-06-15
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy.
Today more than 40 CMT genes have been identified.
Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive.
Thus, more efficient and less costly methods are needed in clinical diagnostics.
We included a population based sample of 81 CMT families.
Gene mutations had previously been identified in 22 families; the remaining 59 families were analysed by next-generation sequencing.
Thirty-two CMT genes and 19 genes causing other inherited neuropathies were included in a custom panel.
Variants were classified into five pathogenicity classes by genotype-phenotype correlations and bioinformatics tools.
Gene mutations, classified certainly or likely pathogenic, were identified in 37 (46%) of the 81 families.
Point mutations in known CMT genes were identified in 21 families (26%), whereas four families (5%) had point mutations in other neuropathy genes, ARHGEF10, POLG, SETX, and SOD1.
Eleven families (14%) carried the PMP22 duplication and one family carried a MPZ duplication (1%).
Most mutations were identified not only in known CMT genes but also in other neuropathy genes, emphasising that genetic analysis should not be restricted to CMT genes only.
Next-generation sequencing is a cost-effective tool in diagnosis of CMT improving diagnostic precision and time efficiency.
American Psychological Association (APA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. 2014. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International،Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-454834
Modern Language Association (MLA)
Høyer, Helle…[et al.]. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International No. 2014 (2014), pp.1-13.
https://search.emarefa.net/detail/BIM-454834
American Medical Association (AMA)
Høyer, Helle& Braathen, Geir J.& Busk, Øyvind L.& Holla, Øystein L.& Svendsen, Marit& Hilmarsen, Hilde T.…[et al.]. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-454834
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-454834