Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Journal of Human Genetics
Sibel A Ugur IseriUgur Ozbek

Abstract

Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder characterised by significantly impaired intellectual and adaptive functioning. ID is commonly syndromic and associated with developmental, metabolic and/or neurological findings. Autosomal recessive ID (ARID) is a significant component of ID especially in the presence of parental consanguinity. Several ultra rare ARID associated variants in numerous genes specific almost to single families have been identified by unbiased next generation sequencing technologies. However, most of these new candidate ARID genes have not been replicated in new families due to the rarity of associated alleles in this highly heterogeneous condition. To determine the genetic component of ARID in a consanguineous family from Turkey, we have performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in an affected sibling. Eventually, we have identified a novel pathogenic variant in EEF1D, which has recently been recognised as a novel candidate gene for ARID in a single family. EEF1D encodes a ubiquitously expressed translational elongation factor functioning in the cytoplasm. Herein, we suggest that the loss of function variants excl...Continue Reading

References

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Citations

Feb 2, 2021·Frontiers in Molecular Biosciences·Taku KaitsukaMasayuki Matsushita

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Methods Mentioned

BETA
genotyping
exome sequencing

Software Mentioned

Illumina GenomeStudio
Genome Data Viewer
Allegro
ENSEMBL
OGT
SIFT
easyLINKAGE
cnvPartition
PolyPhen
ENSEMBL Variant Effector Predictor Tool ( VEP )

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