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Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490121/ https://www.ncbi.nlm.nih.gov/pubmed/32939518 http://dx.doi.org/10.1055/s-0040-1714092 |
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author | Yalcintepe, Sinem Demir, Selma Atli, Emine Ikbal Deveci, Murat Atli, Engin Gurkan, Hakan |
author_facet | Yalcintepe, Sinem Demir, Selma Atli, Emine Ikbal Deveci, Murat Atli, Engin Gurkan, Hakan |
author_sort | Yalcintepe, Sinem |
collection | PubMed |
description | Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4( FBN1 ):c.229G > A(p.Gly77Arg), NM_000138.4( FBN1 ):c.165–2A > G (novel), NM_000138.4( FBN1 ):c.399delC (p.Cys134ValfsTer8) (novel) were determined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. With an accurate diagnosis and genetic counseling for prognosis of patients and family testing, the prenatal diagnosis will be possible. |
format | Online Article Text |
id | pubmed-7490121 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Georg Thieme Verlag KG |
record_format | MEDLINE/PubMed |
spelling | pubmed-74901212020-09-15 Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome Yalcintepe, Sinem Demir, Selma Atli, Emine Ikbal Deveci, Murat Atli, Engin Gurkan, Hakan Glob Med Genet Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4( FBN1 ):c.229G > A(p.Gly77Arg), NM_000138.4( FBN1 ):c.165–2A > G (novel), NM_000138.4( FBN1 ):c.399delC (p.Cys134ValfsTer8) (novel) were determined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. With an accurate diagnosis and genetic counseling for prognosis of patients and family testing, the prenatal diagnosis will be possible. Georg Thieme Verlag KG 2020-08 2020-08-20 /pmc/articles/PMC7490121/ /pubmed/32939518 http://dx.doi.org/10.1055/s-0040-1714092 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ). https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Yalcintepe, Sinem Demir, Selma Atli, Emine Ikbal Deveci, Murat Atli, Engin Gurkan, Hakan Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome |
title |
Two Novel Pathogenic
FBN1
Variations and Their Phenotypic Relationship of Marfan Syndrome
|
title_full |
Two Novel Pathogenic
FBN1
Variations and Their Phenotypic Relationship of Marfan Syndrome
|
title_fullStr |
Two Novel Pathogenic
FBN1
Variations and Their Phenotypic Relationship of Marfan Syndrome
|
title_full_unstemmed |
Two Novel Pathogenic
FBN1
Variations and Their Phenotypic Relationship of Marfan Syndrome
|
title_short |
Two Novel Pathogenic
FBN1
Variations and Their Phenotypic Relationship of Marfan Syndrome
|
title_sort | two novel pathogenic
fbn1
variations and their phenotypic relationship of marfan syndrome |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490121/ https://www.ncbi.nlm.nih.gov/pubmed/32939518 http://dx.doi.org/10.1055/s-0040-1714092 |
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