当前位置: X-MOL 学术J. Neurogenet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
Journal of Neurogenetics ( IF 1.9 ) Pub Date : 2019-02-06 , DOI: 10.1080/01677063.2018.1555249
Weiyi Mu 1 , Nicoline Schiess 2 , Jennifer L Orthmann-Murphy 2, 3 , Ayman W El-Hattab 4
Affiliation  

There is increasing evidence that whole exome sequencing (WES) has a high diagnostic yield and is cost-efficient for individuals with neurological phenotypes. However, there is limited data on the use of WES in non-Western populations, including populations with a high rate of consanguinity. Retrospective chart review was performed on 24 adults with undiagnosed neurological symptoms evaluated in genetics and neurology clinics in a tertiary care facility on the Arabian Peninsula, and had WES between 2014 and 2016. Definitive diagnoses were made in 13/24 (54%) of cases. Of these, 5/13 (38%) revealed novel pathogenic variants. Of the known 19/24 (79%) consanguineous cases, diagnostic rate was slightly higher, 11/19 (58%) as compared to 2/5 (40%) among non-consanguineous cases. Autosomal recessive disorders comprised 10/13 (77%) of molecular diagnoses, all found to be due to homozygous pathogenic variants among consanguineous cases. WES in this cohort of adults with neurological symptoms had a high diagnostic rate likely due to high consanguinity rates in this population, as evidenced by the high diagnostic rate of homozygous pathogenic variants.



中文翻译:

完整外显子组测序在诊断来自高血缘人群的成人神经系统疾病中的实用性。

越来越多的证据表明,全外显子组测序(WES)的诊断率很高,并且对于具有神经系统表型的个体而言具有成本效益。但是,在非西方人群(包括血缘关系很高的人群)中使用WES的数据有限。在阿拉伯半岛一家三级医疗机构的遗传学和神经病学诊所对24名未确诊的神经系统症状的成年人进行了回顾性图表审查,其2014年至2016年间患有WES。在13/24(54%)的病例中进行了明确的诊断。其中,5/13(38%)发现了新的致病变异。在已知的19/24(79%)血缘病例中,诊断率稍高,为11/19(58%),相比之下,非血缘病例为2/5(40%)。常染色体隐性遗传疾病占分子诊断的10/13(77%),所有这些都归因于近亲病例中的纯合致病变异。该人群中神经系统症状的WES诊断率较高,这可能是由于该人群的血缘率高,这由纯合病原体变异体的高诊断率所证明。

更新日期:2019-02-06
down
wechat
bug