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dc.contributor.authorZimon, Magdalena
dc.contributor.authorBattaloglu, Esra
dc.contributor.authorParman, Yesim
dc.contributor.authorErdem, Sevim
dc.contributor.authorBaets, Jonathan
dc.contributor.authorDe Vriendt, Els
dc.contributor.authorAtkinson, Derek
dc.contributor.authorAlmeida-Souza, Leonardo
dc.contributor.authorDeconinck, Tine
dc.contributor.authorOzes, Burcak
dc.contributor.authorGoossens, Dirk
dc.contributor.authorCirak, Sebahattin
dc.contributor.authorVan Damme, Philip
dc.contributor.authorShboul, Mohammad
dc.contributor.authorVoit, Thomas
dc.contributor.authorVan Maldergem, Lionel
dc.contributor.authorDan, Bernard
dc.contributor.authorEl-Khateeb, Mohammed S.
dc.contributor.authorGuergueltcheva, Velina
dc.contributor.authorLopez-Laso, Eduardo
dc.contributor.authorGoemans, Nathalie
dc.contributor.authorMasri, Amira
dc.contributor.authorZuechner, Stephan
dc.contributor.authorTimmerman, Vincent
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorDe Jonghe, Peter
dc.contributor.authorJordanova, Albena
dc.date.accessioned2019-12-10T11:26:26Z
dc.date.available2019-12-10T11:26:26Z
dc.date.issued2015
dc.identifier.issn1364-6745
dc.identifier.urihttps://doi.org/10.1007/s10048-014-0422-0
dc.identifier.urihttp://hdl.handle.net/11655/15761
dc.description.abstractAutosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT families. Initial sequencing of the three most common ARCMT genes (ganglioside-induced differentiation protein 1-GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2-SH3TC2, histidine-triad nucleotide binding protein 1-HINT1) identified pathogenic mutations in 41 patients. Subsequently, 87 selected nuclear families underwent single nucleotide polymorphism (SNP) genotyping and homozygosity mapping, followed by targeted screening of known ARCMT genes. This strategy provided molecular diagnosis to 22 % of the families. Altogether, our unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41.3 % patients. Apart from a newly described founder mutation in GDAP1, the majority of variants constitute private molecular defects. Since the gene testing was independent of the clinical phenotype of the patients, we identified mutations in patients with unusual or additional clinical features, extending the phenotypic spectrum of the SH3TC2 gene. Our study provides an overview of the ARCMT genetic landscape and proposes guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies.
dc.language.isoen
dc.publisherSpringer
dc.relation.isversionof10.1007/s10048-014-0422-0
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.subjectNeurosciences & Neurology
dc.titleUnraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalNeurogenetics
dc.contributor.departmentNöroloji
dc.identifier.volume16
dc.identifier.issue1
dc.identifier.startpage33
dc.identifier.endpage42
dc.description.indexWoS


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