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

3 Citations (Scopus)

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

Fingerprint

Progeria
Lamin Type A
Atrioventricular Block
Genes
Mutation
Emery-Dreifuss Muscular Dystrophy
Limb-Girdle Muscular Dystrophies
Exome
Premature Aging
Lipodystrophy
Dilated Cardiomyopathy
Muscular Diseases
Sudden Death
Tooth
DNA

Keywords

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

ASJC Scopus subject areas

  • Immunology
  • Ageing

Cite this

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. / Villa, Francesco; Maciag, Anna; Spinelli, Chiara C.; Ferrario, Anna; Carrizzo, Albino; Parisi, Attilio; Torella, Annalaura; Montenero, Chiara; Condorelli, Gianluigi; Vecchione, Carmine; Nigro, Vincenzo; Montenero, Annibale S.; Puca, Annibale A.

In: Immunity and Ageing, Vol. 11, No. 1, 19, 26.11.2014.

Research output: Contribution to journalArticle

Villa, Francesco ; Maciag, Anna ; Spinelli, Chiara C. ; Ferrario, Anna ; Carrizzo, Albino ; Parisi, Attilio ; Torella, Annalaura ; Montenero, Chiara ; Condorelli, Gianluigi ; Vecchione, Carmine ; Nigro, Vincenzo ; Montenero, Annibale S. ; Puca, Annibale A. / A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. In: Immunity and Ageing. 2014 ; Vol. 11, No. 1.
@article{8383051108f24c3282113a4ac94b2990,
title = "A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block",
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.",
keywords = "Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, Exome sequencing, Lamin A/C",
author = "Francesco Villa and Anna Maciag and Spinelli, {Chiara C.} and Anna Ferrario and Albino Carrizzo and Attilio Parisi and Annalaura Torella and Chiara Montenero and Gianluigi Condorelli and Carmine Vecchione and Vincenzo Nigro and Montenero, {Annibale S.} and Puca, {Annibale A.}",
year = "2014",
month = "11",
day = "26",
doi = "10.1186/s12979-014-0019-3",
language = "English",
volume = "11",
journal = "Immunity and Ageing",
issn = "1742-4933",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

AU - Villa, Francesco

AU - Maciag, Anna

AU - Spinelli, Chiara C.

AU - Ferrario, Anna

AU - Carrizzo, Albino

AU - Parisi, Attilio

AU - Torella, Annalaura

AU - Montenero, Chiara

AU - Condorelli, Gianluigi

AU - Vecchione, Carmine

AU - Nigro, Vincenzo

AU - Montenero, Annibale S.

AU - Puca, Annibale A.

PY - 2014/11/26

Y1 - 2014/11/26

N2 - 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.

AB - 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.

KW - Arrhythmia

KW - Atrioventricular block

KW - Dilated cardiomyopathy

KW - Exome sequencing

KW - Lamin A/C

UR - http://www.scopus.com/inward/record.url?scp=84924917704&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84924917704&partnerID=8YFLogxK

U2 - 10.1186/s12979-014-0019-3

DO - 10.1186/s12979-014-0019-3

M3 - Article

VL - 11

JO - Immunity and Ageing

JF - Immunity and Ageing

SN - 1742-4933

IS - 1

M1 - 19

ER -