Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients

Peter Hackman, Vesa Juvonen, Jaakko Sarparanta, M Penttinen, Tuula Äärimaa, M Uusitalo, Mari Auranen, Helena Pihko, Reija Alen, M Junes, Tuula Lönnqvist, Hannu Kalimo, Bjarne Udd

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    "Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of similar to60.000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending greater than or equal to790 kilibases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well."
    Original languageEnglish
    JournalMuscle & Nerve
    Volume31
    Issue number2
    Pages (from-to)199-204
    Number of pages6
    ISSN0148-639X
    DOIs
    Publication statusPublished - 2005
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 3124 Neurology and psychiatry

    Cite this

    Hackman, Peter ; Juvonen, Vesa ; Sarparanta, Jaakko ; Penttinen, M ; Äärimaa, Tuula ; Uusitalo, M ; Auranen, Mari ; Pihko, Helena ; Alen, Reija ; Junes, M ; Lönnqvist, Tuula ; Kalimo, Hannu ; Udd, Bjarne. / Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients. In: Muscle & Nerve. 2005 ; Vol. 31, No. 2. pp. 199-204.
    @article{3cb789a708c84ec2b41d69733e4120cb,
    title = "Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients",
    abstract = "{"}Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of similar to60.000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending greater than or equal to790 kilibases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well.{"}",
    keywords = "3124 Neurology and psychiatry",
    author = "Peter Hackman and Vesa Juvonen and Jaakko Sarparanta and M Penttinen and Tuula {\"A}{\"a}rimaa and M Uusitalo and Mari Auranen and Helena Pihko and Reija Alen and M Junes and Tuula L{\"o}nnqvist and Hannu Kalimo and Bjarne Udd",
    year = "2005",
    doi = "10.1002/mus.20267",
    language = "English",
    volume = "31",
    pages = "199--204",
    journal = "Muscle & Nerve",
    issn = "0148-639X",
    publisher = "Wiley",
    number = "2",

    }

    Hackman, P, Juvonen, V, Sarparanta, J, Penttinen, M, Äärimaa, T, Uusitalo, M, Auranen, M, Pihko, H, Alen, R, Junes, M, Lönnqvist, T, Kalimo, H & Udd, B 2005, 'Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients', Muscle & Nerve, vol. 31, no. 2, pp. 199-204. https://doi.org/10.1002/mus.20267

    Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients. / Hackman, Peter; Juvonen, Vesa; Sarparanta, Jaakko; Penttinen, M; Äärimaa, Tuula; Uusitalo, M; Auranen, Mari; Pihko, Helena; Alen, Reija; Junes, M; Lönnqvist, Tuula; Kalimo, Hannu; Udd, Bjarne.

    In: Muscle & Nerve, Vol. 31, No. 2, 2005, p. 199-204.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients

    AU - Hackman, Peter

    AU - Juvonen, Vesa

    AU - Sarparanta, Jaakko

    AU - Penttinen, M

    AU - Äärimaa, Tuula

    AU - Uusitalo, M

    AU - Auranen, Mari

    AU - Pihko, Helena

    AU - Alen, Reija

    AU - Junes, M

    AU - Lönnqvist, Tuula

    AU - Kalimo, Hannu

    AU - Udd, Bjarne

    PY - 2005

    Y1 - 2005

    N2 - "Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of similar to60.000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending greater than or equal to790 kilibases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well."

    AB - "Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the alpha-sarcoglycan gene (SGCA). The most frequently reported mutation, 229CGC>TGC (R77C) in exon 3 of SGCA, results in the substitution of arginine by cysteine. We present here the clinical, immunohistochemical, and genetic data of 11 Finnish patients with LGMD2D caused by mutations in SGCA. Mutational analysis showed 10 patients homozygous and 1 compound heterozygous for R77C. A wide spectrum of SGCA mutations has been reported previously. Our results show an enrichment of R77C in Finland, further underlined by the observed carrier frequency of 1 per 150. According to the annual birth rate of similar to60.000 in Finland, one LGMD2D patient with a homozygous mutation is expected to be born every 1 or 2 years on average. The presence of an ancient founder mutation is indicated by the fact that all patients shared a short common haplotype extending greater than or equal to790 kilibases. Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well."

    KW - 3124 Neurology and psychiatry

    U2 - 10.1002/mus.20267

    DO - 10.1002/mus.20267

    M3 - Article

    VL - 31

    SP - 199

    EP - 204

    JO - Muscle & Nerve

    JF - Muscle & Nerve

    SN - 0148-639X

    IS - 2

    ER -