A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Adriana Amaral CarvalhoRenato Assis MachadoCélia Márcia Fernandes MaiaLuis Antônio Nogueira Dos SantosDaniella Reis Barbosa MartelliRicardo Della ColettaHercílio Martelli JúniorPublished in: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo (2024)
MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.