A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

作者：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^*; Beck Bodo B

来源：PLos One, 2013, 8(10): UNSP e76414.

DOI：10.1371/journal.pone.0076414

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.

• 出版日期2013-10-4