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Apert's syndrome: Study by whole exome sequencing

Apert's syndrome: Study by whole exome sequencing

Anjana Munshi
Preeti Khetarpal
Satrupa Das
Venkateshwar Rao
Monica Valecha
Manita Bansal
Roshan Kumar
Genes & Diseases第5卷, 第2期pp.119-122纸质出版 2018-06-01在线发表 2017-08-16
120000

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.

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Apert syndromeCraniosynostosisExome sequencingFGFR2 geneParent-child trio study