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A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
The fat mass and obesity associated gene (FTO) 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 FTO animal models have further demonstrated a role for FTO in the d...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880488/ https://www.ncbi.nlm.nih.gov/pubmed/26740239 http://dx.doi.org/10.1038/jhg.2015.160 |
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author | Çağlayan, Ahmet Okay Tüysüz, Beyhan Coşkun, Süleyman Quon, Jennifer Harmanci, Akdes Serin Baranoski, Jacob F. Baran, Burçin Erson-Omay, E. Zeynep Henegariu, Octavian Mane, Shrikant M. Bilgüvar, Kaya Yasuno, Katsuhito Günel, Murat |
author_facet | Çağlayan, Ahmet Okay Tüysüz, Beyhan Coşkun, Süleyman Quon, Jennifer Harmanci, Akdes Serin Baranoski, Jacob F. Baran, Burçin Erson-Omay, E. Zeynep Henegariu, Octavian Mane, Shrikant M. Bilgüvar, Kaya Yasuno, Katsuhito Günel, Murat |
author_sort | Çağlayan, Ahmet Okay |
collection | PubMed |
description | The fat mass and obesity associated gene (FTO) 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 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 CNV 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 nucleus of cells from each tested samples. Western blot analysis demonstrated no changes in patient FTO. Q-PCR analysis revealed slightly decreased levels of FTO expression in patient cells compared to 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. |
format | Online Article Text |
id | pubmed-4880488 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
record_format | MEDLINE/PubMed |
spelling | pubmed-48804882016-07-08 A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP Çağlayan, Ahmet Okay Tüysüz, Beyhan Coşkun, Süleyman Quon, Jennifer Harmanci, Akdes Serin Baranoski, Jacob F. Baran, Burçin Erson-Omay, E. Zeynep Henegariu, Octavian Mane, Shrikant M. Bilgüvar, Kaya Yasuno, Katsuhito Günel, Murat J Hum Genet Article The fat mass and obesity associated gene (FTO) 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 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 CNV 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 nucleus of cells from each tested samples. Western blot analysis demonstrated no changes in patient FTO. Q-PCR analysis revealed slightly decreased levels of FTO expression in patient cells compared to 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. 2016-01-07 2016-05 /pmc/articles/PMC4880488/ /pubmed/26740239 http://dx.doi.org/10.1038/jhg.2015.160 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article Çağlayan, Ahmet Okay Tüysüz, Beyhan Coşkun, Süleyman Quon, Jennifer Harmanci, Akdes Serin Baranoski, Jacob F. Baran, Burçin Erson-Omay, E. Zeynep Henegariu, Octavian Mane, Shrikant M. Bilgüvar, Kaya Yasuno, Katsuhito Günel, Murat A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title_full | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title_fullStr | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title_full_unstemmed | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title_short | A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP |
title_sort | patient with a novel homozygous missense mutation in fto and concomitant nonsense mutation in cetp |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880488/ https://www.ncbi.nlm.nih.gov/pubmed/26740239 http://dx.doi.org/10.1038/jhg.2015.160 |
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