Wiethoff, S;
Xiromerisiou, G;
Bettencourt, C;
Kioumi, A;
Tsiptsios, I;
Tychalas, A;
Evaggelia, M;
... Houlden, H; + view all
(2014)
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.
Journal of the Neurological Sciences
, 339
(1-2)
pp. 220-222.
10.1016/j.jns.2014.01.034.
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Abstract
We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional Factor IX-deficiency. Genetic testing for mutations in the three exons of the XK gene revealed a previously unreported hemizygous single base-pair frameshift deletion at exon 1 (c.229delC, p.Leu80fs). In conclusion, we hereby describe a rare phenotype of a patient with McLeod syndrome which was discovered coincidentally during routine blood group testing and consecutively genetically confirmed.
| Type: | Article |
|---|---|
| Title: | Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jns.2014.01.034 |
| Publisher version: | http://dx.doi.org/10.1016/j.jns.2014.01.034 |
| Language: | English |
| Additional information: | This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/ |
| Keywords: | Acanthocytosis, Chorea, Frameshift deletion, McLeod syndromes, Non-CGD, Novel mutation, XK gene, Aged, Amino Acid Sequence, Amino Acid Transport Systems, Neutral, Base Pairing, Exons, Gene Deletion, Hemolysis, Humans, Male, Molecular Sequence Data, Muscular Atrophy, Neuroacanthocytosis, Pedigree, Peripheral Nervous System Diseases |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1419868 |
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