The LCA5 gene encodes lebercilin, a protein whose function is yet to be fully characterized. However, it is believed to play a role in minus end-directed microtubule transport as well as in centrosomal and ciliary functions. Mutations in the LCA5 gene have been associated with Leber Congenital Amaurosis 5 (LCA5), an early onset ocular disorder characterized by retinal dystrophy, vision loss and nystagmus.
The LCA5 gene is located on the long arm of chromosome 6. It spans a length of 52 kb of DNA and its coding sequence is spread across 9 exons. The protein product encoded by this gene has a molecular mass of 80.5 kDa and consists of 697 amino acids. The gene is highly expressed in the fetal eye, cochlea and brain, and in the adult retina, testis, kidney, and heart. Homozygous mutations in the gene are associated with LCA5, and they include deletions, duplications and transitions that result in frameshift and premature truncation.
Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 3-year-old male, suffered from an atrial septal defect, failure to thrive, growth retardation, fine/gross motor delay, speech delay, learning disability, stereotypic behaviors, cleft lip, blindness and congenital heart disease. Using whole exome sequencing, a homozygous mutation (c.763C>T, p.R255X) was identified in exon 4 of the patient’s LCA5 gene. This mutation explained the phenotype of LCA, while the remaining congenital anomalies were attributed to an additional unidentified variant.
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