Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

Michal Vytopil, Enzo Ricci, Antonio Dello Russo, Frank Hanisch, Stephan Neudecker, Stephan Zierz, Roberta Ricotti, Laurence Demay, Pascale Richard, Manfred Wehnert, Gisèle Bonne, Luciano Merlini, Daniela Toniolo

Research output: Contribution to journalArticle

Abstract

Emery Dreifuss muscular dystrophy is a genetically heterogeneous disorder characterized by the clinical triad of early onset contractures, progressive muscular wasting and weakness with humeroperoneal distribution and cardiac conduction defects. Mutations in the Lamin A/C (LMNA) gene are responsible for the autosomal dominant and the autosomal recessive forms. Familiar and sporadic patients carrying mutations in the LMNA gene show high variability in the clinical symptomatology and age of onset. In this report, we describe four families harboring missense mutations in the LMNA gene and we show that the effect of mutations ranges from silent to fully penetrant. We suggest that incomplete penetrance of dominant mutations in the LMNA gene is a common feature and we emphasize the significance of mutational analysis in relatives of sporadic cases of laminopathies, as asymptomatic carriers face high risk of sudden cardiac death.

Original languageEnglish
Pages (from-to)958-963
Number of pages6
JournalNeuromuscular Disorders
Volume12
Issue number10
DOIs
Publication statusPublished - Dec 2002

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Keywords

  • Emery Dreifuss muscular dystrophy
  • Lamin A/C gene
  • Low penetrance mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Vytopil, M., Ricci, E., Dello Russo, A., Hanisch, F., Neudecker, S., Zierz, S., Ricotti, R., Demay, L., Richard, P., Wehnert, M., Bonne, G., Merlini, L., & Toniolo, D. (2002). Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscular Disorders, 12(10), 958-963. https://doi.org/10.1016/S0960-8966(02)00178-5