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A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
Research output: Contribution to journal › Journal article › Research › peer-review
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 language | English |
|---|---|
| Journal | Molecular Genetics and Metabolism |
| Volume | 110 |
| Issue number | 4 |
| Pages (from-to) | 490-2 |
| Number of pages | 3 |
| ISSN | 1096-7192 |
| DOIs | |
| Publication status | Published - Dec 2013 |
ID: 42454930