Apert's syndrome: Study by whole exome sequencing

In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR...

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Autores principales: Munshi, Anjana, Khetarpal, Preeti, Das, Satrupa, Rao, Venkateshwar, Valecha, Monica, Bansal, Manita, Kumar, Roshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147108/
https://www.ncbi.nlm.nih.gov/pubmed/30258940
http://dx.doi.org/10.1016/j.gendis.2017.07.008
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author Munshi, Anjana
Khetarpal, Preeti
Das, Satrupa
Rao, Venkateshwar
Valecha, Monica
Bansal, Manita
Kumar, Roshan
author_facet Munshi, Anjana
Khetarpal, Preeti
Das, Satrupa
Rao, Venkateshwar
Valecha, Monica
Bansal, Manita
Kumar, Roshan
author_sort Munshi, Anjana
collection PubMed
description In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene. Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert's syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship.
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spelling pubmed-61471082018-09-26 Apert's syndrome: Study by whole exome sequencing Munshi, Anjana Khetarpal, Preeti Das, Satrupa Rao, Venkateshwar Valecha, Monica Bansal, Manita Kumar, Roshan Genes Dis Article In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene. Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert's syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship. Chongqing Medical University 2017-08-16 /pmc/articles/PMC6147108/ /pubmed/30258940 http://dx.doi.org/10.1016/j.gendis.2017.07.008 Text en © 2017 Chongqing Medical University. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Munshi, Anjana
Khetarpal, Preeti
Das, Satrupa
Rao, Venkateshwar
Valecha, Monica
Bansal, Manita
Kumar, Roshan
Apert's syndrome: Study by whole exome sequencing
title Apert's syndrome: Study by whole exome sequencing
title_full Apert's syndrome: Study by whole exome sequencing
title_fullStr Apert's syndrome: Study by whole exome sequencing
title_full_unstemmed Apert's syndrome: Study by whole exome sequencing
title_short Apert's syndrome: Study by whole exome sequencing
title_sort apert's syndrome: study by whole exome sequencing
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147108/
https://www.ncbi.nlm.nih.gov/pubmed/30258940
http://dx.doi.org/10.1016/j.gendis.2017.07.008
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