EEF1D-Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant.
8 affiliations
- 1Department of Medical Genetics, Isfahan University of Medical Sciences, Isfahan, Iran.
- 2Department of Medical Genetics, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
- 3Department of Cell and Molecular Sciences, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.
- 4Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
- 5Research Center for Cancer Screening and Epidemiology, AJA University of Medical Sciences, Tehran, Iran.
- 6Institute of Health, Shiraz University of Medical Sciences, Shiraz, Iran.
- 7Departments of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
- 8Myelin Disorders Clinic, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Abstract
Background
Global developmental delay (GDD) and intellectual disability (ID) are neurodevelopmental conditions with significant phenotypic and genetic heterogeneity. EEF1D (OMIM* 130592) has recently been identified as a gene of interest in neurodevelopmental disorders. Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (NEDTCHAL) (OMIM #621150) is caused by homozygous or compound heterozygous disease-causing variants in the EEF1D.Methods
We performed whole exome sequencing (WES) on an Iranian sibling presenting with global developmental delay, intellectual disability, microcephaly, and failure to thrive. Bioinformatic analysis and Sanger sequencing were used to validate and characterize the identified variant.Results
A novel homozygous splicing variant in EEF1D (c.1489-26_1493del) was identified in both affected individuals. The variant is predicted to disrupt splicing and cause a frameshift deletion. Previous studies have implicated biallelic EEF1D variants in neurodevelopmental disorders, and this report is the first from the Iranian population and the seventh family to be reported worldwide with this rare condition.Conclusion
This report provides further evidence for the association between EEF1D variants and neurodevelopmental disorders, expanding the phenotypic spectrum of EEF1D-related conditions. It reinforces the importance of recognizing EEF1D as a key gene involved in developmental delay and intellectual disability.
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BibTeX
@article{ganji2026eef1dassociated,
title = {{EEF1D-Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant.}},
author = {Maedeh Ganji and Arastoo Kaki and Mohammad Farid Mohammadi and Javad Behroozi and Seyed Mohammad Kahani and Behzad Rezaei and Afshin Fayazi and Pouria Mohammadi and Ali H Bereshneh and Masoud Garshasbi},
journal = {Molecular genetics \& genomic medicine},
year = {2026},
month = oct,
doi = {10.1002/mgg3.70287},
url = {https://europepmc.org/article/MED/42904867},
note = {CC BY},
}
RIS
TY - JOUR
TI - EEF1D-Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant.
AU - Maedeh Ganji
AU - Arastoo Kaki
AU - Mohammad Farid Mohammadi
AU - Javad Behroozi
AU - Seyed Mohammad Kahani
AU - Behzad Rezaei
AU - Afshin Fayazi
AU - Pouria Mohammadi
AU - Ali H Bereshneh
AU - Masoud Garshasbi
PY - 2026
DA - 2026/10/01
JO - Molecular genetics & genomic medicine
DO - 10.1002/mgg3.70287
UR - https://europepmc.org/article/MED/42904867
AB - Background Global developmental delay (GDD) and intellectual disability (ID) are neurodevelopmental conditions with significant phenotypic and genetic heterogeneity. EEF1D (OMIM* 130592) has recently been identified as a gene of interest in neurodevelopmental disorders. Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (NEDTCHAL) (OMIM #621150) is caused by homozygous or compound heterozygous disease-causing variants in the EEF1D.Methods We performed whole exome sequencing (WES) on an Iranian sibling presenting with global developmental delay, intellectual disability, microcephaly, and failure to thrive. Bioinformatic analysis and Sanger sequencing were used to validate and characterize the identified variant.Results A novel homozygous splicing variant in EEF1D (c.1489-26_1493del) was identified in both affected individuals. The variant is predicted to disrupt splicing and cause a frameshift deletion. Previous studies have implicated biallelic EEF1D variants in neurodevelopmental disorders, and this report is the first from the Iranian population and the seventh family to be reported worldwide with this rare condition.Conclusion This report provides further evidence for the association between EEF1D variants and neurodevelopmental disorders, expanding the phenotypic spectrum of EEF1D-related conditions. It reinforces the importance of recognizing EEF1D as a key gene involved in developmental delay and intellectual disability.
SN - 2324-9269
ER -