A spontaneous novel XK gene mutation in a patient with McLeod syndrome

A 29‐year‐old man with a history of elevated creatine kinase and necrotizing myopathy was reviewed. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present, findings consistent with the McLeod syndrome. Investigation of the patient's XK gene revealed a...

Full description

Saved in:
Bibliographic Details
Published in:British journal of haematology 2001-11, Vol.115 (2), p.369-372
Main Authors: Supple, S. G., Iland, H. J., Barnett, M. H., Pollard, J. D.
Format: Article
Language:English
Subjects:
acanthocytosis
Adult
Amino Acid Transport Systems, Neutral
Anemias. Hemoglobinopathies
Biological and medical sciences
Carrier Proteins - genetics
Chorea - blood
Chorea - genetics
Diseases of red blood cells
DNA Mutational Analysis
Female
Hematologic and hematopoietic diseases
Hematologic Diseases - blood
Hematologic Diseases - genetics
Hematology
Humans
Kell Blood-Group System - blood
Male
McLeod syndrome
Medical sciences
Membrane Proteins - genetics
mutation
Point Mutation
Syndrome
XK gene
XK protein
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A 29‐year‐old man with a history of elevated creatine kinase and necrotizing myopathy was reviewed. Prominent red cell acanthocytosis in association with reduced Kell antigen expression was present, findings consistent with the McLeod syndrome. Investigation of the patient's XK gene revealed a novel TGG‐ to‐TAG transition at position 1023 in exon 3. This point mutation creates an in‐frame stop codon (W314X), and predicts a truncated XK protein of 313 amino acids, compared with 444 amino acids in the normal XK protein. The mutation was not identified in the patient's mother or sister indicating that this mutation was spontaneous.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.2001.03121.x