Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family
Jiamei Zhang, Hongxing Liu, Mingmei Wang, Yiran Xu, Dengna Zhu, Fan Yang - Genetics (clinical)
- Genetics
- Molecular Biology
Abstract
Background
Intellectual disability is a prevalent neurodevelopmental disorder, with the majority of affected children exhibiting global developmental delay before the age of 5 years. In recent years, certain children have been found to carry homozygous variations of the EEF1D gene, leading to autosomal recessive intellectual disability. However, the pathogenicity of compound heterozygous variations in this gene remains largely unknown.
Methods
Trio whole‐exome sequencing and copy number variation sequencing were done for the genetic etiological diagnosis of a 3‐year and 11‐month‐old Chinese boy who presented with brachycephaly, severe to profound global developmental delay, and hypotonia in the lower limbs.
Results
In this case, compound heterozygous variants of the EEF1D gene were found in the child through trio whole‐exome sequencing; one was a splice variant (NM_032378.6:c.1905+1G>A) inherited from his father, and the other was a nonsense variant (NM_032378.6:c.676C>T) inherited from his mother. The nonsense variant leads to the production of a premature termination (p.Gln226*). These variations have the ability to explain the clinical phenotypes of the child.
Conclusions
Our study expands the variation spectrum and provides compelling evidence for EEF1D as a candidate gene for autosomal recessive intellectual disability. However, due to the deficient number of reported cases, researchers need to further study EEF1D and supplement the clinical phenotypes and treatment measures.