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

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

Molecular genetics and metabolism (2013-10-09)
Lisbeth Birk Møller, Gillian Rea, Saiqa Yasmeen, Tina Skjørringe, Sidsel Salling Thorborg, Patrick J Morrison, Deirdre E Donnelly
PMID24100245
摘要

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.