Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Roesler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmueller, Janine, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Hahnen, Eric and Beck, Bodo B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schild, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neugebauer, AntjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lappa, AlexandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fricke, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fauser, SaschaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roesler, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pannes, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zarrinnam, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Motameny, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, Bodo B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-474199
DOI: 10.1371/journal.pone.0076414
Journal or Publication Title: PLoS One
Volume: 8
Number: 10
Date: 2013
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1932-6203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
STATIONARY NIGHT BLINDNESS; LINKED RETINAL DISORDER; PROGRESSIVE CONE; CALCIUM-CHANNEL; CLINICAL-FEATURES; RIBBON SYNAPSES; EYE DISEASE; HIGH MYOPIA; MUTATIONS; FAMILIESMultiple languages
Multidisciplinary SciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47419

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