dc.contributor.author | Caglayan, Ahmet Okay | |
dc.contributor.author | Sezer, Rabia Gonul | |
dc.contributor.author | Kaymakcalan, Hande | |
dc.contributor.author | Ulgen, Ege | |
dc.contributor.author | Yavuz, Taner | |
dc.contributor.author | Baranoski, Jacob F. | |
dc.contributor.author | Gunel, Murat | |
dc.date.accessioned | 2019-08-13T12:10:23Z | |
dc.date.accessioned | 2019-08-13T15:56:18Z | |
dc.date.available | 2019-08-13T12:10:23Z | |
dc.date.available | 2019-08-13T15:56:18Z | |
dc.date.issued | 2017 | |
dc.identifier.issn | 2373-2873 | |
dc.identifier.uri | https://dx.doi.org/10.1101/mcs.a001859 | |
dc.identifier.uri | http://hdl.handle.net/11446/2270 | |
dc.description | WOS: 000450930400006 | en_US |
dc.description | PubMed ID: 28630369 | en_US |
dc.description.abstract | Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and as a high-throughput discovery tool for identifying novel disease-causing genes. We describe a male infant with primary dilated cardiomyopathy who was diagnosed using intrauterine echocardiography and found to progress to hypertrophic cardiomyopathy after birth. This proband was born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation. Using whole-exome sequencing, a novel homozygous frameshift mutation (c.2018delC; p.GIn675SerfsX30) in ALPK3 was identified and confirmed with Sanger sequencing. Heterozygous family members were normal with echocardiographic examination. To date, only two studies have reported homozygous pathogenic variants of ALPK3, with a total of seven affected individuals with cardiomyopathy from four unrelated consanguineous families. We include a discussion of the patient's phenotypic features and a review of relevant literature findings. | en_US |
dc.description.sponsorship | Yale Program on Neurogenetics; Yale Center for Mendelian Disorders [U54HG006504]; National Institutes of Health (NIH) Medical Scientist Training Program [T32GM007205]; Gregory M. Kiez and Mehmet Kutman Foundation | en_US |
dc.description.sponsorship | This work was supported by the Yale Program on Neurogenetics and the Yale Center for Mendelian Disorders (U54HG006504), the National Institutes of Health (NIH) Medical Scientist Training Program Grant T32GM007205, and the Gregory M. Kiez and Mehmet Kutman Foundation (M.G.). | en_US |
dc.language.iso | eng | en_US |
dc.publisher | COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT | en_US |
dc.identifier.doi | 10.1101/mcs.a001859 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.title | ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features | en_US |
dc.type | article | en_US |
dc.relation.journal | COLD SPRING HARBOR MOLECULAR CASE STUDIES | en_US |
dc.department | DBÜ | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.volume | 3 | en_US |
dc.contributor.authorID | 0000-0002-9447-3583 | en_US |
dc.contributor.authorID | 0000-0002-3606-532X | en_US |
dc.contributor.authorID | 0000-0003-2090-3621 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.department-temp | [Caglayan, Ahmet Okay] Istanbul Bilim Univ, Sch Med, Dept Med Genet, TR-34394 Istanbul, Turkey -- [Caglayan, Ahmet Okay -- Ulgen, Ege -- Baranoski, Jacob F. -- Harmanci, Akdes Serin -- Youngblood, Mark W. -- Yasuno, Katsuhito -- Gunel, Murat] Yale Sch Med, Dept Neurosurg Neurobiol & Genet, New Haven, CT 06510 USA -- [Sezer, Rabia Gonul -- Bozaykut, Abdulkadir] Univ Hlth Sci, Dept Pediat, Zeynep Kamil Matern & Childrens Dis Training & Re, TR-34668 Istanbul, Turkey -- [Kaymakcalan, Hande] Istanbul Bilim Univ, Sch Med, Dept Pediat, TR-34394 Istanbul, Turkey -- [Yavuz, Taner] Zeynep Kamil Matern & Childrens Dis Training & Re, Dept Pediat, Div Pediat Cardiol, TR-34668 Istanbul, Turkey -- [Yalcin, Yalim] Istanbul Bilim Univ, Sch Med, Dept Pediat, Div Pediat Cardiol, TR-34394 Istanbul, Turkey -- [Bilguvar, Kaya] Yale Sch Med, Yale Ctr Genome Anal, Dept Genet, New Haven, CT 06510 USA | en_US |