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

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

doi:10.1016/j.ymgme.2013.09.012

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

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

Afdeling for Genetik DIA

4 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Molecular Genetics and Metabolism
Vol/bind	110
Udgave nummer	4
Sider (fra-til)	490-2
Antal sider	3
ISSN	1096-7192
DOI	https://doi.org/10.1016/j.ymgme.2013.09.012
Status	Udgivet - dec. 2013

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abstract = "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.",

author = "M{\o}ller, \{Lisbeth Birk\} and Gillian Rea and Saiqa Yasmeen and Tina Skj{\o}rringe and Thorborg, \{Sidsel Salling\} and Morrison, \{Patrick J\} and Donnelly, \{Deirdre E\}",

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T1 - A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

AU - Møller, Lisbeth Birk

AU - Rea, Gillian

AU - Yasmeen, Saiqa

AU - Skjørringe, Tina

AU - Thorborg, Sidsel Salling

AU - Morrison, Patrick J

AU - Donnelly, Deirdre E

PY - 2013/12

Y1 - 2013/12

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84897071370

U2 - 10.1016/j.ymgme.2013.09.012

DO - 10.1016/j.ymgme.2013.09.012

M3 - Journal article

C2 - 24100245

SN - 1096-7192

VL - 110

SP - 490

EP - 492

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

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

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