Li L, Jiao X, D’Atri I, Ono F, Nelson R, Chan C-C, et al. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14(8): e1007504.

A recent study conducted at the Max Planck Institute for Molecular Genetics identified a homozygous missense alteration in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent.

RP is a group of conditions affecting the function of light receptor cells in the eye, leading to reduced night vision, loss of peripheral vision, loss of central vision, and eventually leading to complete blindness. Autosomal recessive RP has been linked to a newly-identified homozygous genetic variant in the gene CLCC1.

The team of researchers demonstrated that alterations to this gene and protein channel affect cell survival and eye development in cell culture, as well as retinal structure and physiology in genetically-altered zebrafish and mice. This is the first identification of CLCC1 as a cause of human disease.

prepGEM was used to extract fish genomic DNA from larva or adult fish tail fin.

Read the study here. Download the PDF.