LMNA
Gene name: lamin A/COMIM ID: 150330
Chromosome location: 1q22
Mutations
| Disease/Phenotype | Hutchinson-Gilford progeria |
|---|---|
| Reference transcript | NM_170707.3 |
| DNA Change | c.1824C>T |
| A.A. Change | p.Gly608Gly |
| Exon/Intron | exon 11 |
| Mutation Type | substitution |
| Reference | Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A.[Three cases of Hutchinson-Gilford progeria syndrome]. Arch Pediatr. 2011 Feb;18(2):156-9. |
| Disease/Phenotype | Hutchinson-Gilford progeria |
|---|---|
| Reference transcript | NM_170707.3 |
| DNA Change | c.412G>A |
| A.A. Change | p.Glu138Lys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M, Gallano P.LMNA mutation in progeroid syndrome in association with strokes. Eur J Med Genet. 2011 Nov-Dec;54(6):e576-9. |
| Disease/Phenotype | Hutchinson-Gilford progeria |
|---|---|
| Reference transcript | NM_170707.3 |
| DNA Change | c.412G>A |
| A.A. Change | p.Glu138Lys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, L?vy N, Sefiani A.An inherited LMNA gene mutation in atypical progeria syndrome. Am J Med Genet A. 2012 Sep 18. |
| Disease/Phenotype | Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|---|---|
| Reference transcript | NM_170707.3 |
| DNA Change | c.892C>T |
| A.A. Change | p.Arg298Cys |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain. 2007 Apr;130(Pt 4):1062-75. |