Apert's syndrome: Study by whole exome sequencing
| Autor: | Manita Bansal, Venkateshwar B Rao, Satrupa Das, Monica Valecha, Anjana Munshi, Preeti Khetarpal, Rohitashw Kumar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities lcsh:QH426-470 Genetic counseling Single-nucleotide polymorphism Apert syndrome Biology Biochemistry Craniosynostosis 03 medical and health sciences 0302 clinical medicine medicine Molecular Biology Allele frequency Genetics (clinical) Exome sequencing Genetics lcsh:R5-920 Cell Biology Ion semiconductor sequencing medicine.disease lcsh:Genetics 030104 developmental biology Mutation (genetic algorithm) lcsh:Medicine (General) 030217 neurology & neurosurgery |
| Zdroj: | Genes and Diseases, Vol 5, Iss 2, Pp 119-122 (2018) |
| ISSN: | 2352-3042 |
| Popis: | 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. Keywords: Apert syndrome, Craniosynostosis, Exome sequencing, FGFR2 gene, Parent–child trio study |
| Databáze: | OpenAIRE |
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