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

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 additio...

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Veröffentlicht in:	Molecular genetics and metabolism 2013-12, Vol.110 (4), p.490-492
Hauptverfasser:	Møller, Lisbeth Birk, Rea, Gillian, Yasmeen, Saiqa, Skjørringe, Tina, Thorborg, Sidsel Salling, Morrison, Patrick J., Donnelly, Deirdre E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics ATP7A Cation Transport Proteins - genetics Copper-transporting ATPases Exons Genetic Association Studies Genotype–phenotype Humans Male Menkes disease Menkes Kinky Hair Syndrome - genetics Menkes Kinky Hair Syndrome - pathology Mutation RNA Splicing - genetics Silent mutation
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