Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis
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-defi...
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| Published in: | Journal of the neurological sciences Vol. 339; no. 1; pp. 220 - 222 |
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| Main Authors: | , , , , , , , , , , |
| Format: | Journal Article |
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| Abstract | 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. |
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| AbstractList | 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.
•McLeod syndrome with chorea, muscle wasting, and peripheral neuropathy•Acanthocytosis and haemolysis in the absence of Kell RBC antigens•McLeod syndrome with an additional Factor IX deficiency•Novel hemizygous single base-pair frameshift deletion in the XK gene 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. 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. • McLeod syndrome with chorea, muscle wasting, and peripheral neuropathy • Acanthocytosis and haemolysis in the absence of Kell RBC antigens • McLeod syndrome with an additional Factor IX deficiency • Novel hemizygous single base-pair frameshift deletion in the XK gene 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. |
| Author | Makris, Vasileios Houlden, Henry Xiromerisiou, Georgia Kioumi, Anna Bettencourt, Conceição Evaggelia, Markousi Wiethoff, Sarah Tychalas, Athanasios Tsiptsios, Iakovos George, Kaltsounis Hardy, John |
| AuthorAffiliation | e Orthopedic Department, Papageorgiou Hospital, Thessaloniki, Greece d Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece c Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece a Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK b MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK |
| AuthorAffiliation_xml | – name: a Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK – name: c Department of Neurology, Papageorgiou Hospital, Thessaloniki, Greece – name: b MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK – name: d Department of Haematology, Papageorgiou Hospital, Thessaloniki, Greece – name: e Orthopedic Department, Papageorgiou Hospital, Thessaloniki, Greece |
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| Keywords | McLeod syndromes XK gene Acanthocytosis Non-CGD Chorea Frameshift deletion Novel mutation |
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| License | http://creativecommons.org/licenses/by/3.0 Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/). |
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| References | Jung, Danek, Frey (bb0025) 2007; 93 Danek, Rubio, Rampoldi, Ho, Dobson-Stone, Tison (bb0015) 2001; 50 Man, Yuen, Yip, Ng (bb0020) 2013 Ho, Chelly, Carter, Danek, Crocker, Monaco (bb0005) 1994; 77 Chakravarty, Bhattacharya, Banerjee, Mukherjee (bb0035) 2011; 14 Walker, Jung, Tison, Lee, Danek (bb0030) 2007; 22 Jung, Danek, Walker (bb0010) 2011; 6 Walker (10.1016/j.jns.2014.01.034_bb0030) 2007; 22 Ho (10.1016/j.jns.2014.01.034_bb0005) 1994; 77 Jung (10.1016/j.jns.2014.01.034_bb0010) 2011; 6 Danek (10.1016/j.jns.2014.01.034_bb0015) 2001; 50 Man (10.1016/j.jns.2014.01.034_bb0020) 2013 Jung (10.1016/j.jns.2014.01.034_bb0025) 2007; 93 Chakravarty (10.1016/j.jns.2014.01.034_bb0035) 2011; 14 |
| References_xml | – volume: 50 start-page: 755 year: 2001 end-page: 764 ident: bb0015 article-title: McLeod neuroacanthocytosis: genotype and phenotype publication-title: Ann Neurol contributor: fullname: Tison – volume: 77 start-page: 869 year: 1994 end-page: 880 ident: bb0005 article-title: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein publication-title: Cell contributor: fullname: Monaco – volume: 14 start-page: 53 year: 2011 end-page: 55 ident: bb0035 article-title: Mcleod syndrome: report of an Indian family with phenotypic heterogeneity publication-title: Ann Indian Acad Neurol contributor: fullname: Mukherjee – volume: 93 start-page: 112 year: 2007 end-page: 121 ident: bb0025 article-title: McLeod syndrome: a neurohaematological disorder publication-title: Vox Sang contributor: fullname: Frey – volume: 22 start-page: 244 year: 2007 end-page: 248 ident: bb0030 article-title: Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome publication-title: Mov Disord contributor: fullname: Danek – volume: 6 start-page: 68 year: 2011 ident: bb0010 article-title: Neuroacanthocytosis syndromes publication-title: Orphanet J Rare Dis contributor: fullname: Walker – year: 2013 ident: bb0020 article-title: The first case report of McLeod syndrome in a Chinese patient publication-title: BMJ Case Rep contributor: fullname: Ng – volume: 93 start-page: 112 issue: 2 year: 2007 ident: 10.1016/j.jns.2014.01.034_bb0025 article-title: McLeod syndrome: a neurohaematological disorder publication-title: Vox Sang doi: 10.1111/j.1423-0410.2007.00949.x contributor: fullname: Jung – volume: 14 start-page: 53 issue: 1 year: 2011 ident: 10.1016/j.jns.2014.01.034_bb0035 article-title: Mcleod syndrome: report of an Indian family with phenotypic heterogeneity publication-title: Ann Indian Acad Neurol doi: 10.4103/0972-2327.78053 contributor: fullname: Chakravarty – volume: 77 start-page: 869 issue: 6 year: 1994 ident: 10.1016/j.jns.2014.01.034_bb0005 article-title: Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein publication-title: Cell doi: 10.1016/0092-8674(94)90136-8 contributor: fullname: Ho – volume: 50 start-page: 755 issue: 6 year: 2001 ident: 10.1016/j.jns.2014.01.034_bb0015 article-title: McLeod neuroacanthocytosis: genotype and phenotype publication-title: Ann Neurol doi: 10.1002/ana.10035 contributor: fullname: Danek – year: 2013 ident: 10.1016/j.jns.2014.01.034_bb0020 article-title: The first case report of McLeod syndrome in a Chinese patient publication-title: BMJ Case Rep doi: 10.1136/bcr-2013-200205 contributor: fullname: Man – volume: 22 start-page: 244 issue: 2 year: 2007 ident: 10.1016/j.jns.2014.01.034_bb0030 article-title: Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome publication-title: Mov Disord doi: 10.1002/mds.21224 contributor: fullname: Walker – volume: 6 start-page: 68 year: 2011 ident: 10.1016/j.jns.2014.01.034_bb0010 article-title: Neuroacanthocytosis syndromes publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-6-68 contributor: fullname: Jung |
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| Snippet | 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... 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,... |
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| SubjectTerms | Acanthocytosis Aged Amino Acid Sequence Amino Acid Transport Systems, Neutral - genetics Base Pairing Chorea Exons - genetics Frameshift deletion Gene Deletion Hemolysis - genetics Humans Male McLeod syndromes Molecular Sequence Data Muscular Atrophy - complications Muscular Atrophy - diagnosis Muscular Atrophy - genetics Neuroacanthocytosis - complications Neuroacanthocytosis - diagnosis Neuroacanthocytosis - genetics Neurology Non-CGD Novel mutation Pedigree Peripheral Nervous System Diseases - complications Peripheral Nervous System Diseases - diagnosis Peripheral Nervous System Diseases - genetics Short Communication XK gene |
| 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 |
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