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Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous f...

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Main Authors: Weik, Anja Kathrin (Author) , Rohrschneider, Klaus (Author) , Strom, Tim M. (Author) , Glöckle, Nicola (Author) , Kohl, Susanne (Author) , Wissinger, Bernd (Author) , Weisschuh, Nicole (Author)
Format: Article (Journal)
Language:English
Published: 2016
In: European journal of human genetics
Year: 2015, Volume: 24, Issue: 3, Pages: 459-462
ISSN:1476-5438
DOI:10.1038/ejhg.2015.144
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2015.144
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg2015144
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Author Notes:Anja K. Mayer, Klaus Rohrschneider, Tim M. Strom, Nicola Glöckle, Susanne Kohl, Bernd Wissinger and Nicole Weisschuh

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520 |a Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD. Both genes proved to be mutation negative upon sequencing of exons and canonical splice sites but whole-genome sequencing revealed a private variant located deep in intron 18 of PROM1. In silico and functional analyses of this variant using minigenes as splicing reporters revealed the integration of a pseudoexon in the mutant transcript, thereby leading to a premature termination codon and presumably resulting in a functional null allele. This is the first report of a deep intronic variant that acts as a splicing mutation in PROM1. The detection of such variants escapes the exon-focused techniques typically used in genetic analyses. Sequencing the entire genomic regions of known disease genes might identify more causal mutations in the autosomal recessive form of CRD. 
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