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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Papić, L; Fischer, D; Trajanoski, S; Höftberger, R; Fischer, C; Ströbel, T; Schmidt, WM; Bittner, RE; Schabhüttl, M; Gruber, K; Pieber, TR; Janecke, AR; Auer-Grumbach, M.
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Eur J Med Genet. 2010; 54(3):214-219 Doi: 10.1016/j.ejmg.2010.12.003 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Auer-Grumbach Michaela
Papic Lea
Co-Autor*innen der Med Uni Graz
Fischer Carina
Pieber Thomas
Trajanoski Slave

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A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in the highly heterogeneous muscle disease, limb girdle muscular dystrophy (LGMD). In a consanguineous family, both affected siblings showed homozygous blocks on chromosome 15 corresponding to the LGMD2A locus. Direct sequencing of CAPN3, encoding calpain-3, identified a homozygous deletion c.483delG (p.Ile162SerfsX17). In a sporadic LGMD patient complete absence of caveolin-3 on Western blot was observed. However, a mutation in CAV3 could not be detected. Homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation. Subsequent re-examination of this patient's muscle biopsy showed aberrant α-dystroglycan glycosylation. In summary, we show that whole-genome homozygosity mapping using low cost SNP arrays provides a fast and non-invasive method to identify disease-causing mutations in sporadic patients or sibs from consanguineous families in LGMD2. Furthermore, this is the first study describing that in addition to PTRF, encoding polymerase I and transcript release factor, FKRP mutations may cause secondary caveolin-3 deficiency.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Adult -
Base Sequence -
Blotting, Western -
Calpain - genetics
Caveolin 3 - genetics
Child -
Chromosome Mapping -
Consanguinity -
DNA Mutational Analysis -
Family Health -
Female -
Genome, Human - genetics
Genome-Wide Association Study - methods
Genotype -
Homozygote -
Humans -
Male -
Muscle Proteins - genetics
Muscular Dystrophies, Limb-Girdle - diagnosis
Mutation -
Pedigree -
Polymorphism, Single Nucleotide -
Proteins - genetics

Find related publications in this database (Keywords)
Homozygosity mapping
SNP array
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