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 language | English |
|---|---|
| Article number | 19 |
| Journal | Immunity and Ageing |
| Volume | 11 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Nov 26 2014 |
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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 journal › Article
}
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 -