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The Capital Region of Denmark - a part of Copenhagen University Hospital
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A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

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We present a case of classical Menkes disease (MD) due to a novel "silent" substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and transcripts missing exons 11, 12 and 13 in addition to a very small amount of normal spliced ATP7A transcripts were expressed. This is the first report of a synonymous ATP7A substitution being responsible for MD.
Original languageEnglish
JournalMolecular Genetics and Metabolism
Volume110
Issue number4
Pages (from-to)490-2
Number of pages3
ISSN1096-7192
DOIs
Publication statusPublished - Dec 2013

ID: 42454930