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• W4313648614 endingPage "473" @default.
• W4313648614 startingPage "473" @default.
• W4313648614 abstract "Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in ABCD1 have been explored. Here, we studied a Chinese patient with clinical features similar to those of early-stage CALD but with a negative molecular diagnosis and a sibling who had presumably died of CALD. Trio-based whole-exome sequencing (trio-WES) and RNA sequencing (RNA-Seq) revealed a novel hemizygote NCSS variant c.901-25_901-9 del in ABCD1 intron 1, resulting in a complex splicing pattern. The in vitro minigene assay revealed that the c.901-25_901-9 del construct contained two aberrant transcripts that caused skipping of exon 2 and a small 48-bp deletion on left of the same exon. We identified a novel NCSS variant, that extends the spectrum of the known ABCD1 variants, and demonstrated the pathogenicity of this gene variant. Our findings highlight the importance of combining RNA-Seq and WES techniques for prompt diagnosis of leukodystrophy with NCSS variants." @default.
• W4313648614 created "2023-01-07" @default.
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• W4313648614 date "2023-01-06" @default.
• W4313648614 modified "2023-10-14" @default.
• W4313648614 title "Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1" @default.
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• W4313648614 doi "https://doi.org/10.3390/jcm12020473" @default.
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• W4313648614 hasPublicationYear "2023" @default.
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