lmna missense mutation (c.1580g>t) introduced at lmna gene – position 1580 (nt) in the dna sequence (cgt) causing the guanine to be replaced with the thymine, yielding ctt in the dna sequence. this results at the protein level in the replacement of the arginine by the leucine at the position 527. this leads to destruction of salt bridge and structure destabilization. at phenotype level this manifests with overlapping mandibuloacral dysplasia and progeria syndrome.