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Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencing were carried out to map the disease locus and identify the p.G178R mutation in the asparaginase like-1 gene ( ASRGL1 ), segregating with the retinal dystrophy phenotype in the study pedigree.  ASRGL1  encodes an enzyme that catalyzes the hydrolysis of L-asparagine and isoaspartyl-peptides. Studies on the  ASRGL1  expressed in  Escherichia coli  and transiently transfected mammalian cells indicated that the p.G178R mutation impairs the autocatalytic processing of this enzyme resulting in the loss of functional ASRGL1 and leaving the inactive precursor protein as a destabilized and aggregation-prone protein. A zebrafish model overexpressing the mutant h ASRGL1  developed retinal abnormalities and loss of cone photoreceptors. Our studies suggest that the p.G178R mutation in  ASRGL1  leads to photoreceptor degeneration resulting in progressive vision loss.

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration