KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome
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DOI：
10.1002/ajmg.a.38723
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发表时间：
2018-07-01
影响因子：
2
通讯作者：
Alfadhel, Majid
中科院分区：
文献类型：
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作者：
Alsahli, Saud;Arold, Stefan T.;Alfadhel, Majid
智力障碍（ID）与整体发育迟缓密切相关；后者是为 5 岁以下儿童保留的，因为可靠地评估该人群的临床严重程度具有挑战性。智力障碍是一种常见病症，高达 1%-3% 的人口受到影响，并导致巨大的社会和经济影响。大多数情况下，ID 归因于基因异常；然而，遗传因素在智力障碍中的确切作用尚未确定。全外显子组测序 (WES) 在 ID 的检查中越来越受欢迎，并且已经发表了多项研究，检验了识别致病变异的诊断率 (16%-55%)，随着智商的降低，遗传参与度也随之增加。 WES 还加速了该领域新疾病基因的发现。我们在两兄弟的 KIF16B 基因 (NM_024704.4:c.3611T>G) 中发现了一个新的双等位基因变异，这可能是导致他们表型的原因。
Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%-3% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however, the exact role of genetic involvement in ID is yet to be determined. Whole exome sequencing (WES) has gained popularity in the workup for ID, and multiple studies have been published examining the diagnostic yield in identification of the disease-causing variant (16%-55%), with the genetic involvement increasing as intelligence quotient decreases. WES has also accelerated novel disease gene discovery in this field. We identified a novel biallelic variant in the KIF16B gene (NM_024704.4:c.3611T>G) in two brothers that may be the cause of their phenotype.