Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy

Autor:	Anna Orlova, Daria Guseva, Oxana Ryzhkova
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	dilated cardiomyopathy CASZ1 mutation first de novo mutation Biology (General) QH301-705.5 Chemistry QD1-999
Zdroj:	International Journal of Molecular Sciences, Vol 23, Iss 20, p 12506 (2022)
Druh dokumentu:	article
ISSN:	1422-0067 1661-6596
DOI:	10.3390/ijms232012506
Popis:	A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene. The clinical presentation was similar to the severe phenotype described in previous studies. Conclusions: In this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy.
Databáze:	Directory of Open Access Journals
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