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Article

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.

Molecular genetics and metabolism - 1 Dec 2013

Møller Lisbeth Birk, Rea Gillian, Yasmeen Saiqa, Skjørringe Tina, Thorborg Sidsel Salling, Morrison Patrick J, Donnelly Deirdre E

Abstract excerpt

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...

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PMID: 24100245
DOI: 10.1016/j.ymgme.2013.09.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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