OMIM: 248370Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | LMNA |
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| Dna Change: | c.1580G>T |
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| Protein Change: | p.Arg527Leu |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 9 |
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| Transcript: | NM_170707.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Egypt | NA | Northeast | 3 patients/2 unrelated families | NA | Al-Haggar M et al., 2012Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M, . A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.. Eur. J. Hum. Genet.. 2012; 20(11):1134-40 |
References
Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M, A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.Eur. J. Hum. Genet.. 2012; 20(11):1134-40