Intellectual disability poses a huge burden on the health care system, and it is one of the most common referral reasons to the genetic and child neurology clinic. Intellectual disability (ID) is genetically heterogeneous, and it is associated with several other neurological conditions. Exome sequencing is a robust genetic tool and has revolutionized the process of molecular diagnosis and novel gene discovery. Besides its diagnostic clinical value, novel gene discovery is prime in reverse genetics, when human mutations help to understand the function of a gene and may aid in better understanding of the human brain and nervous system. Using WES, we identified a biallelic truncating variant in DNAJA1 gene (c.511C>T p.(Gln171*) in a multiplex Saudi consanguineous family. The main phenotype shared between the siblings was intellectual disability and seizure disorder.

中文翻译：

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DNAJA1中编码双伴侣Hsp40的截短双等位基因变异与智力障碍和癫痫发作有关。

智力障碍给医疗保健系统带来了沉重负担，这是遗传和儿童神经病学诊所转诊的最常见原因之一。智力残疾（ID）在遗传上是异质的，并且与其他几种神经系统疾病有关。外显子组测序是一种强大的遗传工具，它彻底改变了分子诊断和新基因发现的过程。除了其临床诊断价值外，新的基因发现是反向遗传学的基础，当人类突变有助于理解基因的功能并有助于更好地理解人类的大脑和神经系统时。使用WES，我们在DNAJA1中鉴定了双等位基因的截短变体 该基因（c.511C> T p。（Gln171 *）在一个多重沙特血缘家族中。兄弟姐妹之间共有的主要表型是智力残疾和癫痫发作。