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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523 Doi: 10.1007/s00415-011-6213-8 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Auer-Grumbach Michaela
Fischer Carina
Trajanoski Slave
Co-Autor*innen der Med Uni Graz
Papic Lea
Pieber Thomas
Plecko Barbara
Schabhüttl Maria
Windpassinger Christian

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Considerable non-allelic heterogeneity for autosomal recessively inherited Charcot-Marie-Tooth (ARCMT) disease has challenged molecular testing and often requires a large amount of work in terms of DNA sequencing and data interpretation or remains unpractical. This study tested the value of SNP array-based whole-genome homozygosity mapping as a first step in the molecular genetic diagnosis of sporadic or ARCMT in patients from inbred families or outbred populations with the ancestors originating from the same geographic area. Using 10 K 2.0 and 250 K Nsp Affymetrix SNP arrays, 15 (63%) of 24 CMT patients received an accurate genetic diagnosis. We used our Java-based script eHoPASA CMT-easy Homozygosity Profiling of SNP arrays for CMT patients to display the location of homozygous regions and their extent of marker count and base-pairs throughout the whole genome. CMT4C was the most common genetic subtype with mutations detected in SH3TC2, one (p.E632Kfs13X) appearing to be a novel founder mutation. A sporadic patient with severe CMT was homozygous for the c.250G > C (p.G84R) HSPB1 mutation which has previously been reported to cause autosomal dominant dHMN. Two distantly related CMT1 patients with early disease onset were found to carry a novel homozygous mutation in MFN2 (p.N131S). We conclude that SNP array-based homozygosity mapping is a fast, powerful, and economic tool to guide molecular genetic testing in ARCMT and in selected sporadic CMT patients.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Adult -
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
Child -
Chromosome Mapping -
DNA Mutational Analysis -
Female -
GTP Phosphohydrolases - genetics
Gene Expression Profiling -
Genetic Predisposition to Disease -
Genotype -
HSP27 Heat-Shock Proteins - genetics
Humans -
Male -
Middle Aged -
Mitochondrial Proteins - genetics
Oligonucleotide Array Sequence Analysis -
Polymorphism, Single Nucleotide -
Proteins - genetics
Young Adult -

Find related publications in this database (Keywords)
Autosomal recessive CMT
Homozygosity mapping
SNP array
Hereditary neuropathies
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