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.
Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D'Adamo, M., Vielle, A., et al. (2007). Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 92(11), 4467-4471 [10.1210/jc.2007-0116].
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype
D'ADAMO, MONICA;Guglielmi, V;D'APICE, MARIA ROSARIA;MASALA, SALVATORE;SBRACCIA, PAOLO;NOVELLI, GIUSEPPE
2007-11-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
