Ontology highlight
ABSTRACT:
SUBMITTER: Roosing S
PROVIDER: S-EPMC4129401 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Roosing Susanne S Lamers Ideke J C IJ de Vrieze Erik E van den Born L Ingeborgh LI Lambertus Stanley S Arts Heleen H HH Peters Theo A TA Hoyng Carel B CB Kremer Hannie H Hetterschijt Lisette L Letteboer Stef J F SJ van Wijk Erwin E Roepman Ronald R den Hollander Anneke I AI Cremers Frans P M FP
American journal of human genetics 20140710 2
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. Upon overexpression of POC1B in human TERT-immortalized retinal pigment epithelium 1 cells, the encoded wild-type protein localized to the basal body of the pr ...[more]