Dutch researchers report new mutations in gene linked to cone and cone-rod dystrophies

Researchers based at Radboud University’s Department of Human Genetics in the Netherlands have reported the identification of new mutations in a gene capable of causing cone dystrophy (COD) or cone-rod dystrophy (CRD). Together, these inherited cone disorders are estimated to have a worldwide prevalence of between 1/30,000 and 1/40,000. The Dutch research group found a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in the POC1B gene, encoding POC1 centriolar protein B, in three family members and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810b1G>T) in an unrelated individual. The findings add new information to the aetiology of cone disorders, a critical step on the path to improved diagnoses and eventual treatment.