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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| Format: | Article |
| Language: | English |
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KeAi Communications Co., Ltd.
2018-06-01
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| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304217300478 |
| _version_ | 1797715112503541760 |
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| author | Anjana Munshi Preeti Khetarpal Satrupa Das Venkateshwar Rao Monica Valecha Manita Bansal Roshan Kumar |
| author_facet | Anjana Munshi Preeti Khetarpal Satrupa Das Venkateshwar Rao Monica Valecha Manita Bansal Roshan Kumar |
| author_sort | Anjana Munshi |
| collection | DOAJ |
| 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. Keywords: Apert syndrome, Craniosynostosis, Exome sequencing, FGFR2 gene, Parent–child trio study |
| first_indexed | 2024-03-12T08:02:03Z |
| format | Article |
| id | doaj.art-85636cf0385e4b65b4ecbe0f6496c8fe |
| institution | Directory Open Access Journal |
| issn | 2352-3042 |
| language | English |
| last_indexed | 2024-03-12T08:02:03Z |
| publishDate | 2018-06-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Genes and Diseases |
| spelling | doaj.art-85636cf0385e4b65b4ecbe0f6496c8fe2023-09-02T19:47:03ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422018-06-0152119122Apert's syndrome: Study by whole exome sequencingAnjana Munshi0Preeti Khetarpal1Satrupa Das2Venkateshwar Rao3Monica Valecha4Manita Bansal5Roshan Kumar6Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India; Corresponding author.Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, IndiaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India; Dr. NTR University of Health Sciences, Vijayawada, Andhra Pradesh, IndiaPositive Bioscience Ltd., Mumbai, IndiaPositive Bioscience Ltd., Mumbai, IndiaDept. of Paediatrics, Civil Hospital, Bathinda, Punjab, IndiaCentre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, IndiaIn 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 studyhttp://www.sciencedirect.com/science/article/pii/S2352304217300478 |
| spellingShingle | Anjana Munshi Preeti Khetarpal Satrupa Das Venkateshwar Rao Monica Valecha Manita Bansal Roshan Kumar Apert's syndrome: Study by whole exome sequencing Genes and Diseases |
| 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 |
| url | http://www.sciencedirect.com/science/article/pii/S2352304217300478 |
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