TY - JOUR
T1 - Two McLeod patients with novel mutations in XK
AU - Dubielecka, Patrycja M.
AU - Hwynn, Nelson
AU - Sengun, Cenk
AU - Lee, Soohee
AU - Lomas-Francis, Christine
AU - Singer, Carlos
AU - Fernandez, Hubert H.
AU - Walker, Ruth H.
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 2011/6/15
Y1 - 2011/6/15
N2 - McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two patients who exhibited typical clinical characteristics of MLS. The coding and flanking intronic regions of XK were amplified by PCR, sequenced, and compared with the normal XK sequence. XK protein, and its complexed partner protein, Kell, were assessed by Western blot analysis. Patient 1 was found to have a single base insertion, 605insA at 175Ile creating a frame shift within the coding sequence of XK. Patient 2 had a single base substitution in the 3′ splice sequence of intron 2 (IVS2-2a>g). In both cases mutations resulted in the absence of XK protein.
AB - McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two patients who exhibited typical clinical characteristics of MLS. The coding and flanking intronic regions of XK were amplified by PCR, sequenced, and compared with the normal XK sequence. XK protein, and its complexed partner protein, Kell, were assessed by Western blot analysis. Patient 1 was found to have a single base insertion, 605insA at 175Ile creating a frame shift within the coding sequence of XK. Patient 2 had a single base substitution in the 3′ splice sequence of intron 2 (IVS2-2a>g). In both cases mutations resulted in the absence of XK protein.
KW - Acanthocytosis
KW - Kell blood group antigens
KW - Kell protein
KW - Kx erythrocyte antigen
KW - McLeod blood group
KW - McLeod syndrome
KW - Neuroacanthocytosis
KW - XK protein
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U2 - 10.1016/j.jns.2011.02.028
DO - 10.1016/j.jns.2011.02.028
M3 - Article
C2 - 21463873
AN - SCOPUS:79955680096
VL - 305
SP - 160
EP - 164
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -