Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Shiraz University of Medical Sciences, Shiraz, Iran.
J Mol Neurosci. 2019 Oct;69(2):312-315. doi: 10.1007/s12031-019-01359-z. Epub 2019 Jul 20.
ELMO domain containing 1 (ELMOD1) encodes a protein with GTPase-activating functions. Previous studies have confirmed its overexpression in brain tissues. Although no previous study has reported mutations in this gene in human subjects, spontaneous inactivating mutations in the mouse homolog of this gene have been associated with deafness and balance problems. In the current study, we have performed whole exome sequencing (WES) in a patient with intellectual disability. We found a novel mutation in ELMOD1 gene (c.571delG, p.D191MfsTer25) in the proband and two other affected cases in the family. Segregation analysis showed that parents carried the mutation in the heterozygote state. Consequently, the current study reports the first case of mutation in ELMOD1 in human subjects and demonstrates the significant difference in the phenotypes associated with ELMOD1 mutations in humans and mice.
ELMO 结构域包含蛋白 1（ELMOD1）编码一种具有 GTP 酶激活功能的蛋白质。先前的研究已经证实其在脑组织中的过度表达。尽管以前的研究没有报告在人类受试者中该基因的突变，但这种基因在小鼠同源物中的自发失活突变与耳聋和平衡问题有关。在目前的研究中，我们对一名智力残疾患者进行了外显子组测序（WES）。我们在先证者中发现了 ELMOD1 基因的一个新突变（c.571delG，p.D191MfsTer25），在家族中的另外两个受影响的病例中也发现了该突变。分离分析表明，父母以杂合子状态携带该突变。因此，本研究报告了人类 ELMOD1 突变的首例病例，并证明了人类和小鼠中与 ELMOD1 突变相关的表型存在显著差异。
