阿佩尔综合征：全外显子组测序研究

Apert's syndrome: Study by whole exome sequencing.

作者信息

Munshi Anjana, Khetarpal Preeti, Das Satrupa, Rao Venkateshwar, Valecha Monica, Bansal Manita, Kumar Roshan

机构信息

Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.

出版信息

Genes Dis. 2017 Aug 16;5(2):119-122. doi: 10.1016/j.gendis.2017.07.008. eCollection 2018 Jun.

DOI:10.1016/j.gendis.2017.07.008

PMID:30258940

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6147108/

Abstract

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 gene. Presence of two SNPs rs1047057 and rs554851880 in 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.

摘要

在本研究中，我们尝试采用亲子三联体全外显子组测序（WES）方法来研究Apert综合征。记录了患儿的临床特征，并使用Ion Torrent系统进行全外显子组测序，结果显示该基因中存在先前报道的P253R突变。在该基因中发现了两个单核苷酸多态性（SNP），分别为rs1047057和rs554851880，其等位基因频率分别为0.5113和0.001176，还发现了161个完全破坏性突变。本研究是首次报道的针对Apert综合征患者的外显子组测序方法的案例，旨在为非近亲关系提供更好的遗传咨询。