Abstract | BACKGROUND: 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.
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Authors | Gara Samara Brajadenta, Ariestya Indah Permata Sari, Donny Nauphar, Tiar Masykuroh Pratamawati, Vincent Thoreau |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 13
Issue 1
Pg. 244
(Aug 07 2019)
ISSN: 1752-1947 [Electronic] England |
PMID | 31387623
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- FGFR2 protein, human
- Receptor, Fibroblast Growth Factor, Type 2
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Topics |
- Abnormalities, Multiple
(diagnostic imaging)
- Acrocephalosyndactylia
(diagnosis, genetics)
- Adult
- High-Throughput Nucleotide Sequencing
(methods)
- Humans
- Indonesia
- Male
- Mutation, Missense
- Receptor, Fibroblast Growth Factor, Type 2
- Sequence Analysis, DNA
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