Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
dc.contributor.author | Okamoto, Yuji | |
dc.contributor.author | Goksungur, Meryem Tuba | |
dc.contributor.author | Pehlivan, Davut | |
dc.contributor.author | Beck, Christine R. | |
dc.contributor.author | Gonzaga-Jauregui, Claudia | |
dc.contributor.author | Muzny, Donna M. | |
dc.contributor.author | Lupski, James R. | |
dc.date.accessioned | 2019-08-13T12:10:23Z | |
dc.date.accessioned | 2019-08-13T16:02:40Z | |
dc.date.available | 2019-08-13T12:10:23Z | |
dc.date.available | 2019-08-13T16:02:40Z | |
dc.date.issued | 2014 | |
dc.identifier.issn | 1098-3600 | |
dc.identifier.issn | 1530-0366 | |
dc.identifier.uri | https://dx.doi.org/10.1038/gim.2013.155 | |
dc.identifier.uri | http://hdl.handle.net/11446/2879 | |
dc.description | WOS: 000335610900005 | en_US |
dc.description | PubMed ID: 24136616 | en_US |
dc.description.abstract | Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMTIA neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number Variation as a mutational mechanism. Methods: We performed Agilent 8 x 60K array comparative genomic hybridization on DNA from 12 recessive Turkish families with CMT disease. Additional molecular studies were conducted to detect breakpoint junctions and to evaluate gene expression levels in a family in which we detected an intragenic duplication copy-number variation. Results: We detected an similar to 6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. Further studies showed that this intragenic copy-number variation resulted in a homozygous duplication of exons 6-8 that caused decreased mRNA expression. of NDRG1. Conclusion: Exon-focused high-resolution array comparative ! genomic hybridization enables the detection of copy-number variation carrier states in recessive genes, particularly small copy-number variations encompassing or disrupting single genes. In families for whom. a molecular diagnosis has not been elucidated by conventional clinical assays, an assessment for copy-number variations in known CMT genes might be considered. | en_US |
dc.description.sponsorship | US National Institute of Neurological Disorders and Stroke [R01NS058529]; US National Human Genome Research Institute (NHGRI) [U54HG006542]; NHGRI [U54-HG003273]; Bogazici University Research Fund [09B101]; Neuroimmunology Association (NIMDER) | en_US |
dc.description.sponsorship | We thank the patients and family for their contribution to this study. This work was supported in part by the US National Institute of Neurological Disorders and Stroke grant R01NS058529 and the US National Human Genome Research Institute (NHGRI) grant U54HG006542 to J.R.L. and the NHGRI grant U54-HG003273 to R.A.G. C.R.B. is a Howard Hughes Medical Institute fellow of the Damon Runyon Cancer Research Foundation (DRG 2155-13). This study was partially funded by Bogazici University Research Fund project number 09B101 and Neuroimmunology Association (NIMDER). | en_US |
dc.language.iso | eng | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.identifier.doi | 10.1038/gim.2013.155 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | autosomal recessive | en_US |
dc.subject | Charcot-Marie-Tooth disease | en_US |
dc.subject | CMT4D | en_US |
dc.subject | CNV | en_US |
dc.subject | NDRG1 | en_US |
dc.title | Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D | en_US |
dc.type | article | en_US |
dc.relation.journal | GENETICS IN MEDICINE | en_US |
dc.department | DBÜ | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.volume | 16 | en_US |
dc.identifier.startpage | 386 | en_US |
dc.identifier.endpage | 394 | en_US |
dc.contributor.authorID | 0000-0002-4667-3679 | en_US |
dc.contributor.authorID | 0000-0002-2444-2095 | en_US |
dc.contributor.authorID | 0000-0001-9528-252X | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.department-temp | [Okamoto, Yuji -- Pehlivan, Davut -- Beck, Christine R. -- Gonzaga-Jauregui, Claudia -- Atik, Mehmed M. -- Carvalho, Claudia M. B. -- Boone, Philip M. -- Lupski, James R.] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA -- [Goksungur, Meryem Tuba -- Parman, Yesim] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey -- [Muzny, Donna M. -- Gibbs, Richard A. -- Lupski, James R.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA -- [Matur, Zeliha] Istanbul Bilim Univ, Dept Neurol, Fac Med, Istanbul, Turkey -- [Bayraktar, Serife] Istanbul Univ, Istanbul Fac Med, Dept Opthalmol, Istanbul, Turkey -- [Akyuz, Kaya -- Battaloglu, Esra] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey -- [Lupski, James R.] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA -- [Lupski, James R.] Texas Childrens Hosp, Houston, TX 77030 USA | en_US |
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