A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
dc.contributor.author | Caglayan, Ahmet O. | |
dc.contributor.author | Tuysuz, Beyhan | |
dc.contributor.author | Coskun, Suleyman | |
dc.contributor.author | Quon, Jennifer | |
dc.contributor.author | Harmanci, Akdes S. | |
dc.contributor.author | Baranoski, Jacob F. | |
dc.contributor.author | Gunel, Murat | |
dc.date.accessioned | 2019-08-13T12:10:23Z | |
dc.date.accessioned | 2019-08-13T15:57:18Z | |
dc.date.available | 2019-08-13T12:10:23Z | |
dc.date.available | 2019-08-13T15:57:18Z | |
dc.date.issued | 2016 | |
dc.identifier.issn | 1434-5161 | |
dc.identifier.issn | 1435-232X | |
dc.identifier.uri | https://dx.doi.org/10.1038/jhg.2015.160 | |
dc.identifier.uri | http://hdl.handle.net/11446/2489 | |
dc.description | WOS: 000376504100005 | en_US |
dc.description | PubMed ID: 26740239 | en_US |
dc.description.abstract | The fat mass and obesity associated (FTO) gene has previously been associated with a variety of diseases and conditions, notably obesity, acute coronary syndrome and metabolic syndrome. Reports describing mutations in FTO as well as in FTO animal models have further demonstrated a role for FTO in the development of the brain and other organs. Here, we describe a patient born of consanguineous union who presented with microcephaly, developmental delay, behavioral abnormalities, dysmorphic facial features, hypotonia and other various phenotypic abnormalities. Whole-exome sequencing revealed a novel homozygous missense mutation in FTO and a nonsense mutation in the cholesteryl ester transfer protein (CETP). Exome copy number variation analysis revealed no disease-causing large duplications or deletions within coding regions. Patient's, her parents' and non-related control' fibroblasts were analyzed for morphologic defects, abnormal proliferation, apoptosis and transcriptome profile. We have shown that FTO is located in the nucleus of cells from each tested sample. Western blot analysis demonstrated no changes in patient FTO. Quantitative (qPCR) analysis revealed slightly decreased levels of FTO expression in patient cells compared with controls. No morphological or proliferation differences between the patient and control fibroblasts were observed. There is still much to be learned about the molecular mechanisms by which mutations in FTO contribute to such severe phenotypes. | en_US |
dc.description.sponsorship | NCATS NIH HHS [UL1 TR001863]; NHGRI NIH HHS [U54 HG006504] | en_US |
dc.language.iso | eng | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.identifier.doi | 10.1038/jhg.2015.160 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.title | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP | en_US |
dc.type | article | en_US |
dc.relation.journal | JOURNAL OF HUMAN GENETICS | en_US |
dc.department | DBÜ | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.volume | 61 | en_US |
dc.identifier.startpage | 395 | en_US |
dc.identifier.endpage | 403 | en_US |
dc.contributor.authorID | 0000-0002-3606-532X | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.department-temp | [Caglayan, Ahmet O. -- Coskun, Suleyman -- Quon, Jennifer -- Harmanci, Akdes S. -- Baranoski, Jacob F. -- Baran, Burcin -- Erson-Omay, E. Zeynep -- Henegariu, Octavian -- Yasuno, Katsuhito -- Gunel, Murat] Yale Univ, Sch Med, Dept Neurosurg, Yale Program Brain Tumor Res, New Haven, CT USA -- [Caglayan, Ahmet O. -- Coskun, Suleyman -- Quon, Jennifer -- Harmanci, Akdes S. -- Baranoski, Jacob F. -- Baran, Burcin -- Erson-Omay, E. Zeynep -- Henegariu, Octavian -- Yasuno, Katsuhito -- Gunel, Murat] Yale Univ, Sch Med, Dept Neurol, Yale Program Brain Tumor Res, New Haven, CT 06510 USA -- [Caglayan, Ahmet O. -- Coskun, Suleyman -- Quon, Jennifer -- Harmanci, Akdes S. -- Baranoski, Jacob F. -- Baran, Burcin -- Erson-Omay, E. Zeynep -- Henegariu, Octavian -- Yasuno, Katsuhito -- Gunel, Murat] Yale Univ, Sch Med, Dept Genet, Yale Program Brain Tumor Res, New Haven, CT 06510 USA -- [Caglayan, Ahmet O.] Istanbul Bilim Univ, Sch Med, Dept Med Genet, TR-34394 Istanbul, Turkey -- [Tuysuz, Beyhan] Istanbul Univ, Dept Pediat, Cerrahpasa Fac Med, Div Genet, Istanbul, Turkey -- [Mane, Shrikant M.] Yale Univ, Sch Med, Yale Ctr Genom Anal, New Haven, CT USA -- [Bilguvar, Kaya] Yale Univ, Sch Med, Dept Genet, Ctr Human Genet & Genom, New Haven, CT 06510 USA -- [Bilguvar, Kaya] Yale Univ, Sch Med, Program Neurogenet, New Haven, CT USA | en_US |
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