Ontology highlight
ABSTRACT:
SUBMITTER: Beck BB
PROVIDER: S-EPMC4425427 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Beck Bodo B BB Phillips Jennifer B JB Bartram Malte P MP Wegner Jeremy J Thoenes Michaela M Pannes Andrea A Sampson Josephina J Heller Raoul R Göbel Heike H Koerber Friederike F Neugebauer Antje A Hedergott Andrea A Nürnberg Gudrun G Nürnberg Peter P Thiele Holger H Altmüller Janine J Toliat Mohammad R MR Staubach Simon S Boycott Kym M KM Valente Enza Maria EM Janecke Andreas R AR Eisenberger Tobias T Bergmann Carsten C Tebbe Lars L Wang Yang Y Wu Yundong Y Fry Andrew M AM Westerfield Monte M Wolfrum Uwe U Bolz Hanno J HJ
Human mutation 20140811 10
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formati ...[more]