Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Issue 10 (11th August 2014)

• Record Type: Journal Article
• Authors: Beck, Bodo B.; Phillips, Jennifer B.; Bartram, Malte P.; Wegner, Jeremy; Thoenes, Michaela; Pannes, Andrea; Sampson, Josephina; Heller, Raoul; Göbel, Heike; Koerber, Friederike; Neugebauer, Antje; Hedergott, Andrea; Nürnberg, Gudrun; Nürnberg, Peter; Thiele, Holger; Altmüller, Janine; Toliat, Mohammad R.; Staubach, Simon; Boycott, Kym M.; Valente, Enza Maria; Janecke, Andreas R.; Eisenberger, Tobias; Bergmann, Carsten; Tebbe, Lars; Wang, Yang; Wu, Yundong; Fry, Andrew M.; Westerfield, Monte; Wolfrum, Uwe; Bolz, Hanno J.
• Is Part Of: Human mutation. Volume 35:Issue 10(2014:Oct.)
• Page Start: 1153
• Page End: 1162
• Publication Date: 2014-08-11
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22618
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22618-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We describe a family with severe congenital retinal degeneration (LCA), Joubert syndrome and massively enlarged polycystic kidneys. It results from a homozygous missense mutation in <italic>POC1B</italic>, a gene essential for ciliogenesis, basal body and centrosome integrity. Knockdown in zebrafish evokes a corresponding ocular‐renal phenotype. In view of simultaneous studies reporting mutations in non‐syndromic cone‐rod dystrophy, our findings suggest that <italic>POC1B</italic> mutations may cause retinal ciliopathies of variable severity. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh1f9dbzsp" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>