PuSH - Publikationsserver des Helmholtz Zentrums München: Homozygosity mapping and whole-genome sequencing reveals a deep intronic <em>PROM1</em> mutation causing cone-rod dystrophy by pseudoexon activation.

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Mayer, A.K.* ; Rohrschneider, K.* ; Strom, T.M. ; Glöckle, N.* ; Kohl, S.* ; Wissinger, B.* ; Weisschuh, N.*

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

Eur. J. Hum. Genet. 24, 459-462 (2016)

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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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