In:
Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 55, No. 9 ( 2017-01-1)
Kurzfassung:
The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the Methods: The coding exons and splicing junction sites of the Results: A novel heterozygous CASZ1 mutation, p.K351X, was identified in an index patient with DCM. Genetic analysis of the mutation carrier’s family showed that the mutation co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 referential chromosomes, altered the amino acid that was highly conserved evolutionarily. Biological investigations revealed that the mutant CASZ1 had no transcriptional activity. Conclusions: The current study reveals
Materialart:
Online-Ressource
ISSN:
1437-4331
,
1434-6621
DOI:
10.1515/cclm-2016-0612
Sprache:
Unbekannt
Verlag:
Walter de Gruyter GmbH
Publikationsdatum:
2017
ZDB Id:
1492732-9
SSG:
15,3
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