Apert's syndrome: Study by whole exome sequencing.
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ABSTRACT:
SUBMITTER: Munshi A
PROVIDER: S-EPMC6147108 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Publications
Apert's syndrome: Study by whole exome sequencing.
Munshi Anjana A Khetarpal Preeti P Das Satrupa S Rao Venkateshwar V Valecha Monica M Bansal Manita M Kumar Roshan R
Genes & diseases 20170816 2
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 <i>FGFR2</i> gene. Presence of two SNPs rs1047057 and rs554851880 in <i>FGFR2</i> gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study i ...[more]
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