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• W2896584650 abstract "Choroideremia is a monogenic X-linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene. These variants are commonly base-pair changes, frameshifts, or large deletions. However, a few rare or unusual events comprising large duplications, a retrotransposon insertion, a pseudo-exon activation, and two c-98 promoter substitutions have also been described. Following an exhaustive molecular diagnosis, we identified and characterized three novel atypical disease-causing variants in three unrelated male patients. One is a first-ever reported Alu insertion within CHM and the other two are nucleotide substitutions, c.-90C>G and c.-108A>G, affecting highly conserved promoter positions. RNA analysis combined with western blot and functional assays of patient cells established the pathogenicity of the Alu insertion and the c.-90C>G alteration. Furthermore, luciferase reporter assays suggested a CHM transcription defect associated with the c.-90C>G and c.-108A>G variants. These findings broaden our knowledge of the mutational spectrum and the transcriptional regulation of the CHM gene." @default.
• W2896584650 created "2018-10-26" @default.
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• W2896584650 date "2018-11-08" @default.
• W2896584650 modified "2023-10-18" @default.
• W2896584650 title "Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses" @default.
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• W2896584650 doi "https://doi.org/10.1002/humu.23671" @default.
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