Hutchinson-Gilford progeria
OMIM:176670Mode of inheritance:Autosomal dominant
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | LMNA |
|---|---|
| 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. |
| Gene Symbol | LMNA |
|---|---|
| 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. |
| Gene Symbol | LMNA |
|---|---|
| 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. |