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Titolo:
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
Autore:
Moolman, JA; Reith, S; Uhl, K; Bailey, S; Gautel, M; Jeschke, B; Fischer, C; Ochs, J; McKenna, WJ; Klues, H; Vosberg, HP;
Indirizzi:
Max Planck Inst Phys & Klin Forsch, Abt Expt Kardiol, D-61231 Bad Nauheim,Germany Max Planck Inst Phys & Klin Forsch Bad Nauheim Germany D-61231 m,Germany Univ Stellenbosch, Dept Med Physiol, ZA-7600 Stellenbosch, South Africa Univ Stellenbosch Stellenbosch South Africa ZA-7600 nbosch, South Africa Rhein Westfal TH Aachen, Med Klin 1, Dept Cardiol, D-5100 Aachen, Germany Rhein Westfal TH Aachen Aachen Germany D-5100 ol, D-5100 Aachen, Germany Univ Heidelberg, Inst Human Genet, Heidelberg, Germany Univ Heidelberg Heidelberg Germany nst Human Genet, Heidelberg, Germany St George Hosp, Sch Med, Dept Cardiol Sci, London SW17 0RE, England St George Hosp London England SW17 0RE iol Sci, London SW17 0RE, England European Mol Biol Lab, Heidelberg, Germany European Mol Biol Lab Heidelberg Germany Biol Lab, Heidelberg, Germany
Titolo Testata:
CIRCULATION
fascicolo: 12, volume: 101, anno: 2000,
pagine: 1396 - 1402
SICI:
0009-7322(20000328)101:12<1396:ANCSDS>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
BINDING-PROTEIN-C; TROPONIN-T MUTATIONS; HEAVY-CHAIN GENES; ALPHA-TROPOMYOSIN; ISOFORM TRANSITIONS; MISSENSE MUTATION; SKELETAL-MUSCLE; MYOSIN; LOCUS; MAPS;
Keywords:
genes; cardiomyopathy; diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Vosberg, HP Max Planck Inst Phys & Klin Forsch, Abt Expt Kardiol, Benekestr 2, D-61231Bad Nauheim, Germany Max Planck Inst Phys & Klin Forsch Benekestr 2 Bad Nauheim Germany D-61231
Citazione:
J.A. Moolman et al., "A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance", CIRCULATION, 101(12), 2000, pp. 1396-1402

Abstract

Background-Hypertrophic cardiomyopathy is a myocardial disorder resulting from inherited sarcomeric dysfunction. We report a mutation in the myosin-binding protein-C (MyBP-C) gene, its clinical consequences in a large family, and myocardial tissue findings that may provide insight into the mechanism of disease,Methods and Results-History and clinical status (examination, EGG, and echocardiography) were assessed in 49 members of a multigeneration family. Linkage analysis implicated the MyBP-C gene on chromosome 11. Myocardial mRNA,genomic MyBP-C DNA, and the myocardial proteins of patients and healthy relatives were analyzed, A single guanine nucleotide insertion in exon 25 of the MyBP-C gene resulted in the loss of 40 bases in abnormally processed mRNA, A 30-kDa truncation at the C-terminus of the protein was predicted, buta polypeptide of the expected size (approximate to 95 kDa) was not detected by immunoblot testing, The disease phenotype in this family was characterized in detail: only 10 of 27 gene carriers fulfilled diagnostic criteria. Five carriers showed borderline hypertrophic cardiomyopathy, and 12 carriers were asymptomatic, with normal ECG and echocardiograms. The age of onset in symptomatic patients was late (29 to 68 years). In 2 patients, outflow obstruction required surgery. Two family members experienced premature sudden cardiac death, but survival at 50 years was 95%,Conclusions-Penetrance of this mutation was incomplete and age-dependent. The large number of asymptomatic carriers and the good prognosis support the interpretation of benign disease.

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Documento generato il 03/12/20 alle ore 15:46:04