基因检测对诊断先前未确诊疾病的儿科胃肠病患者的影响。
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
作者信息
Altamimi Eyad, Khanfar Mariam, Rabab'h Omar, Dardas Zain, Srour Luma, Mustafa Lina, Azab Bilal
机构信息
Department of Pediatrics and Neonatology, Jordan University of Science and Technology, Irbid, Jordan.
Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan.
出版信息
Appl Clin Genet. 2020 Dec 16;13:221-231. doi: 10.2147/TACG.S275992. eCollection 2020.
PURPOSE
Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis.
PATIENTS AND METHODS
Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation.
RESULTS
We had a 100% success rate identifying each case presented in this study.
CONCLUSION
This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.
目的
招募了四个有患不明胃肠道相关疾病成员的约旦近亲家庭，以评估全外显子组测序（WES）在明确诊断中的实用性和效率。
患者与方法
本研究招募了四个约旦近亲家庭的成员。实验室和影像学检查用于初步诊断，随后进行WES以检测所有患病成员的致病变异。采用桑格测序进行验证。
结果
我们对本研究中呈现的每个病例的识别成功率为100%。
结论
这是约旦第一项将WES检测方法应用于儿科疾病诊断的研究。我们的结果强烈表明，有必要在临床环境中采用WES作为一种明确的诊断工具，因为这随后将有助于进行适当的疾病管理和遗传咨询。
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