Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
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:...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/20/12506 |
| _version_ | 1797407096638013440 |
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| author | Anna Orlova Daria Guseva Oxana Ryzhkova |
| author_facet | Anna Orlova Daria Guseva Oxana Ryzhkova |
| author_sort | Anna Orlova |
| collection | DOAJ |
| description | 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. |
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| format | Article |
| id | doaj.art-4160c5bdd5784462b65e57543f648a65 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T03:36:19Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-4160c5bdd5784462b65e57543f648a652023-12-03T14:47:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123201250610.3390/ijms232012506Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated CardiomyopathyAnna Orlova0Daria Guseva1Oxana Ryzhkova2SRC «Genome», Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, RussiaCounselling Unit, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, RussiaSRC «Genome», Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, RussiaA 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.https://www.mdpi.com/1422-0067/23/20/12506dilated cardiomyopathyCASZ1 mutationfirst de novo mutation |
| spellingShingle | Anna Orlova Daria Guseva Oxana Ryzhkova Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy International Journal of Molecular Sciences dilated cardiomyopathy CASZ1 mutation first de novo mutation |
| title | Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy |
| title_full | Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy |
| title_fullStr | Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy |
| title_full_unstemmed | Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy |
| title_short | Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy |
| title_sort | identification of a novel de novo variant in the casz1 causing a rare type of dilated cardiomyopathy |
| topic | dilated cardiomyopathy CASZ1 mutation first de novo mutation |
| url | https://www.mdpi.com/1422-0067/23/20/12506 |
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