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: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2016
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| 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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