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

Hauke, J.; Schild, A.; Neugebauer, A.; Lappa, A.; Fricke, J.; Fauser, S.; Rösler, S.; Pannes, A.; Zarrinnam, D.; Altmüller, J.; Motameny, S.; Nürnberg, G.; Nürnberg, P.; Hahnen, E.; Beck, B.B.

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

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Item Type:	Article
Title:	A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype
Creators Name:	Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rösler, S., Pannes, A., Zarrinnam, D., Altmüller, J., Motameny, S., Nürnberg, G., Nürnberg, P., Hahnen, E. and Beck, B.B.
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.
Keywords:	L-Type Calcium Channels, DNA Mutational Analysis, Exome, Genetic Association Studies, X-Linked Genetic Diseases, Genetic Linkage, Mutation, Ophthalmoscopes, Pedigree, Phenotype, Retinitis Pigmentosa, Optical Coherence Tomography
Source:	PLoS ONE
ISSN:	1932-6203
Publisher:	Public Library of Science
Volume:	8
Number:	10
Page Range:	e76414
Date:	4 October 2013
Official Publication:	https://doi.org/10.1371/journal.pone.0076414
PubMed:	View item in PubMed

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