Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease
Joint Authors
Høyer, Helle
Eek, Anette K.
Nordang, Gry B. N.
Skjelbred, Camilla F.
Braathen, Geir J.
Russell, Michael B.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-08
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease.
The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare.
We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families.
The 81 CMT families had previously been screened for the PMP22 duplication and point mutations in 51 peripheral neuropathy genes, and a genetic cause was identified in 37 CMT families (46%).
Index patients from the 44 CMT families with an unknown genetic diagnosis were analysed by whole-genome array comparative genomic hybridization to investigate the entire genome for larger CNVs and multiplex ligation-dependent probe amplification to detect smaller intragenomic CNVs in MFN2 and MPZ.
One patient had the pathogenic PMP22 duplication not detected by previous methods.
Three patients had potentially pathogenic CNVs in the CNTNAP2, LAMA2, or SEMA5A, that is, genes related to neuromuscular or neurodevelopmental disease.
Genotype and phenotype correlation indicated likely pathogenicity for the LAMA2 CNV, whereas the CNTNAP2 and SEMA5A CNVs remained potentially pathogenic.
Except the PMP22 duplication, disease causing CNVs are rare but may cause CMT in about 1% (95% CI 0–7%) of the Norwegian CMT families.
American Psychological Association (APA)
Høyer, Helle& Braathen, Geir J.& Eek, Anette K.& Nordang, Gry B. N.& Skjelbred, Camilla F.& Russell, Michael B.. 2015. Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease. BioMed Research International،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057388
Modern Language Association (MLA)
Høyer, Helle…[et al.]. Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease. BioMed Research International No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1057388
American Medical Association (AMA)
Høyer, Helle& Braathen, Geir J.& Eek, Anette K.& Nordang, Gry B. N.& Skjelbred, Camilla F.& Russell, Michael B.. Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057388
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057388