NDLI: Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

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Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

Content Provider	Springer Nature Link
Author	Zimoń, Magdalena Battaloğlu, Esra Parman, Yesim Erdem, Sevim Baets, Jonathan Vriendt, Els Atkinson, Derek Almeida Souza, Leonardo Deconinck, Tine Ozes, Burcak Goossens, Dirk Cirak, Sebahattin Damme, Philip Shboul, Mohammad Voit, Thomas Maldergem, Lionel Dan, Bernard El Khateeb, Mohammed S. Guergueltcheva, Velina Lopez Laso, Eduardo Goemans, Nathalie Masri, Amira Züchner, Stephan Timmerman, Vincent Topaloğlu, Haluk Jonghe, Peter Jordava, Albena
Copyright Year	2014
Abstract	Autosomal 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.
Starting Page	33
Ending Page	42
Page Count	10
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	16
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-09-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Charcot-Marie-Tooth disease CMT Homozygosity mapping Inbred populations Whole genome SNP genotyping Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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