The EPB41L5 gene encodes a structural constituent of the cytoskeleton that is believed to play a role in the tightness of cell junctions and the establishment of polarity in epithelial-derived tissues. While the EPB41L5 protein is yet to be fully characterized, it has been implicated in several processes during in-utero embryonic development, such as actomyosin structure organization, ectoderm, endoderm and axial mesoderm development, neural plate morphogenesis, epithelial to mesenchymal transition and left/right axis specification.
The EPB41L5 gene is located on the long arm of chromosome 2. It spans a length of 166 kb of DNA and its coding sequence is spread across 28 exons. The gene encodes an 81.8 kDa protein product comprised of 733 amino acids. Several additional isoforms of the EPB41L5 gene exist due to alternatively spliced transcript variants. Expression of the gene is seen in the brain, retina, lung, pancreas and liver.
Monies et al. (2017) evaluated the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 6-year-old female from a consanguineous family, presented with fine motor delay, hypertelorism, panhypopituitarism, myelomeningocele, dislocated hips and scoliosis. Using whole exome sequencing, a heterozygous mutation (c.1178+1G>T) was identified in exon 14 of the patient’s EPB41L5 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene had been implicated in the specification and differentiation of neurons. The authors noted that further studies are required to independently confirm this association.
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