Cargando…

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

BACKGROUND: Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformation...

Descripción completa

Detalles Bibliográficos
Autores principales: Brajadenta, Gara Samara, Sari, Ariestya Indah Permata, Nauphar, Donny, Pratamawati, Tiar Masykuroh, Thoreau, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685243/
https://www.ncbi.nlm.nih.gov/pubmed/31387623
http://dx.doi.org/10.1186/s13256-019-2173-x
_version_ 1783442365993713664
author Brajadenta, Gara Samara
Sari, Ariestya Indah Permata
Nauphar, Donny
Pratamawati, Tiar Masykuroh
Thoreau, Vincent
author_facet Brajadenta, Gara Samara
Sari, Ariestya Indah Permata
Nauphar, Donny
Pratamawati, Tiar Masykuroh
Thoreau, Vincent
author_sort Brajadenta, Gara Samara
collection PubMed
description BACKGROUND: Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome. Most cases of Apert syndrome are caused by one of the two most frequent mutations located in exon 7 (Ser252Trp or Pro253Arg). CASE PRESENTATION: A 27-year-old Javanese man presented borderline intellectual functioning and striking dysmorphisms. A clinical diagnosis of Apert syndrome was previously made based on these clinical features. Furthermore, POSSUM software was used before molecular analysis and the result showed suspected Apert syndrome with a cut-off point of 14. Molecular genetic analysis of FGFR2, targeting exon 7, was performed by direct sequencing. In this patient, a missense mutation c.755C>G was detected, changing a serine into a tryptophan (p.Ser252Trp). CONCLUSION: We report the case of an Indonesian man with Apert syndrome with a c.755C>G (p.Ser252Trp) mutation in the FGFR2 gene. Our patient showed similar dysmorphism to previously reported cases, although cleft palate as a typical feature for p.Ser252Trp mutation was not present. In spite of the accessibility of molecular genetic testing in a few parts of the world, the acknowledgement of clinically well-defined syndromes will remain exceptionally imperative in developing countries with a lack of diagnostic facilities.
format Online
Article
Text
id pubmed-6685243
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-66852432019-08-12 Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report Brajadenta, Gara Samara Sari, Ariestya Indah Permata Nauphar, Donny Pratamawati, Tiar Masykuroh Thoreau, Vincent J Med Case Rep Case Report BACKGROUND: Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome. Most cases of Apert syndrome are caused by one of the two most frequent mutations located in exon 7 (Ser252Trp or Pro253Arg). CASE PRESENTATION: A 27-year-old Javanese man presented borderline intellectual functioning and striking dysmorphisms. A clinical diagnosis of Apert syndrome was previously made based on these clinical features. Furthermore, POSSUM software was used before molecular analysis and the result showed suspected Apert syndrome with a cut-off point of 14. Molecular genetic analysis of FGFR2, targeting exon 7, was performed by direct sequencing. In this patient, a missense mutation c.755C>G was detected, changing a serine into a tryptophan (p.Ser252Trp). CONCLUSION: We report the case of an Indonesian man with Apert syndrome with a c.755C>G (p.Ser252Trp) mutation in the FGFR2 gene. Our patient showed similar dysmorphism to previously reported cases, although cleft palate as a typical feature for p.Ser252Trp mutation was not present. In spite of the accessibility of molecular genetic testing in a few parts of the world, the acknowledgement of clinically well-defined syndromes will remain exceptionally imperative in developing countries with a lack of diagnostic facilities. BioMed Central 2019-08-07 /pmc/articles/PMC6685243/ /pubmed/31387623 http://dx.doi.org/10.1186/s13256-019-2173-x Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Brajadenta, Gara Samara
Sari, Ariestya Indah Permata
Nauphar, Donny
Pratamawati, Tiar Masykuroh
Thoreau, Vincent
Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title_full Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title_fullStr Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title_full_unstemmed Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title_short Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
title_sort molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (fgfr2) gene in an indonesian patient with apert syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685243/
https://www.ncbi.nlm.nih.gov/pubmed/31387623
http://dx.doi.org/10.1186/s13256-019-2173-x
work_keys_str_mv AT brajadentagarasamara molecularanalysisofexon7ofthefibroblastgrowthfactorreceptor2fgfr2geneinanindonesianpatientwithapertsyndromeacasereport
AT sariariestyaindahpermata molecularanalysisofexon7ofthefibroblastgrowthfactorreceptor2fgfr2geneinanindonesianpatientwithapertsyndromeacasereport
AT nauphardonny molecularanalysisofexon7ofthefibroblastgrowthfactorreceptor2fgfr2geneinanindonesianpatientwithapertsyndromeacasereport
AT pratamawatitiarmasykuroh molecularanalysisofexon7ofthefibroblastgrowthfactorreceptor2fgfr2geneinanindonesianpatientwithapertsyndromeacasereport
AT thoreauvincent molecularanalysisofexon7ofthefibroblastgrowthfactorreceptor2fgfr2geneinanindonesianpatientwithapertsyndromeacasereport