Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease, which leads to neurodegenerative processes that cause neuron demyelination. MS is multifactorial with uncertain etiology, where interactions between genetic makeup of an individual and environmental factors influence disease risk. More than 200 risk variants have been implicated in MS, each contributed to understanding the etiology of MS through providing meaningful clues of the functional mechanisms underlying the development of this disease. This study aimed to identify genetic variants associated with MS in the Jordanian population. We performed whole exome sequencing for eight pairs of related patients from eight different families including one pair of discordant monozygotic twins, to determine the shared genetic information and genetic variants, and their correlation to MS. We identified rare exonic missense and frame shift variants segregating in all patients in MUC6, MUC16, and MUC19 genes, which are involved in innate immunity, in addition to ZNF717 gene. Moreover, variants in two of the previously described MS genes (HLA-DRB1, HLA- DRQ1) were also segregating in most patients. These molecular genetic details require further validation and functional analysis, to be implicated in the clinical diagnosis process of MS. This is the first attempt to characterize the genetic factors associated with MS in the Jordanian population.

多发性硬化症（MS）是一种慢性炎症性自身免疫疾病，会导致导致神经元脱髓鞘的神经变性过程。MS是病因不明的多因素因素，其中个体的遗传组成与环境因素之间的相互作用会影响疾病风险。MS中涉及200多种风险变体，每种变体通过提供有意义的线索来阐明MS的病因，从而为该病的发展提供了线索。这项研究旨在确定约旦人口中与MS相关的遗传变异。我们对来自八个不同家庭的八对相关患者（包括一对不一致的单卵双胞胎）进行了全外显子组测序，以确定共享的遗传信息和遗传变异及其与MS的相关性。我们确定了除ZNF717基因外，MUC6，MUC16和MUC19基因的所有患者中都罕见的外显子错义和移码变异体，这些基因参与先天免疫。此外，在大多数患者中，两个先前描述的MS基因（HLA-DRB1，HLA-DRQ1）中的变异也被隔离。这些分子遗传学细节需要进一步的验证和功能分析，以牵涉MS的临床诊断过程。这是表征约旦人口中MS相关遗传因素的首次尝​​试。HLA-DRQ1）在大多数患者中也都隔离。这些分子遗传学细节需要进一步的验证和功能分析，以牵涉MS的临床诊断过程。这是表征约旦人口中MS相关遗传因素的首次尝​​试。HLA-DRQ1）在大多数患者中也都隔离。这些分子遗传学细节需要进一步的验证和功能分析，以牵涉MS的临床诊断过程。这是表征约旦人口中MS相关遗传因素的首次尝​​试。