Apert’s syndrome:Study by whole exome sequencing  

作　　者：Anjana Munshi Preeti Khetarpal Satrupa Das Venkateshwar Rao Monica Valecha Manita Bansal Roshan Kumar 

机构地区：[1]Centre for Human Genetics and Molecular Medicine,School of Health Sciences,Central University of Punjab,Bathinda,Punjab,India [2]Institute of Genetics and Hospital for Genetic Diseases,Osmania University,Begumpet,Hyderabad,India [3]Dr.NTR University of Health Sciences,Vijayawada,Andhra Pradesh,India [4]Positive Bioscience Ltd.,Mumbai,India [5]Dept.of Paediatrics,Civil Hospital,Bathinda,Punjab,India

出　　处：《Genes & Diseases》2018年第2期119-122,共4页基因与疾病（英文）

摘　　要：In the present study we attempted a parente-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.

关 键 词：Apert syndrome CRANIOSYNOSTOSIS Exome sequencing FGFR2 gene Parente-child trio study 

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