Journal of Molecular Neuroscience

, Volume 69, Issue 2, pp 312–315 | Cite as

ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder

  • Mohammad Miryounesi
  • Sorya Bahari
  • Shadab Salehpour
  • Nasrin Alipour
  • Soudeh Ghafouri-FardEmail author


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 domain containing 1 ELMOD1 Intellectual disability 


Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Genomic Research CenterShahid Beheshti University of Medical SciencesTehranIran
  2. 2.Shiraz University of Medical SciencesShirazIran
  3. 3.Department of Pediatric Endocrinology and Metabolism, Mofid Children’s HospitalShahid Beheshti University of Medical SciencesTehranIran
  4. 4.Department of Medical GeneticsShahid Beheshti University of Medical SciencesTehranIran

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