Referenced in: none

Automatically associated channels: Cav1.4

Title: A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Authors: Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B Beck

Journal, date & volume: PLoS ONE, 2013 , 8, e76414

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24124559

Abstract
Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.