A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

Francesco Villa, Anna Maciag, Chiara C. Spinelli, Anna Ferrario, Albino Carrizzo, Attilio Parisi, Annalaura Torella, Chiara Montenero, Gianluigi Condorelli, Carmine Vecchione, Vincenzo Nigro, Annibale S. Montenero, Annibale A. Puca

Research output: Contribution to journalArticle

Abstract

LMNA/C mutations have been linked to the premature aging syndrome Hutchinson's progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. Results: DNA and medical histories were collected from (n=11) members of different generations of one family, the proband of which was implanted with a pacemaker for lone, type II AVB. Exome sequencing analysis was performed on three relatives with AVB, and the mutations therein identified validated in a further three AVB-affected family members. Conclusions: Screening for G613A in LMNA/C in patients with lone AVB and their relatives might prevent sudden death in families affected by AVB but without familiarity for DCM. Lone AVB is an age-related disease caused by mutations in LMNA/C gene rather than a complication of DCM.

Original languageEnglish
Article number19
JournalImmunity and Ageing
Volume11
Issue number1
DOIs
Publication statusPublished - Nov 26 2014

Keywords

  • Arrhythmia
  • Atrioventricular block
  • Dilated cardiomyopathy
  • Exome sequencing
  • Lamin A/C

ASJC Scopus subject areas

  • Immunology
  • Ageing

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