OMIM: 607855Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LAMA2 |
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| Dna Change: | c.2901C>A |
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| Protein Change: | p.Cys967X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 21 |
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| Transcript: | NM_000426.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Albania | NA | NA | 1 patient | NA | Di Blasi C et al., 2005Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M, . LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.. Arch. Neurol.. 2005; 62(10):1582-6 |
| Italy | NA | southern Adriatic coast | 2 families/4 families | NA | Guicheney P et al., 1998Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K, . PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.. J. Med. Genet.. 1998; 35(3):211-7 |
| Italy | NA | NA | 1 patient | NA | Di Blasi C et al., 2005Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M, . LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.. Arch. Neurol.. 2005; 62(10):1582-6 |
| Gene/Locus: | LAMA2 |
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| Dna Change: | 2098delAG |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 13 |
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| Transcript: | NM_000426.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 3 families/5 families | NA | Guicheney P et al., 1998Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K, . PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.. J. Med. Genet.. 1998; 35(3):211-7 |
References
Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M, LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.Arch. Neurol.. 2005; 62(10):1582-6
Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K, PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.J. Med. Genet.. 1998; 35(3):211-7