Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype
- Lombardi, F
- Gullotta, F
- Columbaro, M
- Filareto, A
- Vielle, A
- Guglielmi, V
- Nardone, AM
- Azzolini, V
- Grosso, E
- Lattanzi, G
- Maraldi, NM
- D'ADAMO, MONICA
- D'APICE, MARIA ROSARIA
- MASALA, SALVATORE
- SBRACCIA, PAOLO
- NOVELLI, GIUSEPPE
DOIAbstract
Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial and skeletal features, lipodystrophy, and metabolic complications. Most Italian patients carry the same homozygous missense mutation (p.R527H) in the C-terminal tail domain of the LMNA gene, which encodes lamin A/C, an intermediate filament component of the nuclear envelope
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