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A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis
Author(s) -
Ho M. F.,
Chalmers R. M.,
Davis M. B.,
Harding A. E.,
Monaco A. P. MD
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410390518
Subject(s) - frameshift mutation , point mutation , exon , genetics , mutation , gene , medicine , biology
McLeod syndrome is an X‐linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the family revealed a novel point mutation in exon 2 that creates a frameshift and results in premature termination of translation. There was marked skewing of X inactivation in the severely affected female.