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Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion
Author(s) -
Hershkovitz Eli,
Narkis Ginat,
Shorer Zamir,
Moser Ann B.,
Watkins Paul A.,
Moser Hugo W.,
Manor Esther
Publication year - 2002
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.10248
Subject(s) - adrenoleukodystrophy , x chromosome , x inactivation , biology , genetics , girl , skewed x inactivation , heterozygote advantage , mutation , gene , allele , peroxisome
An 8.5‐year‐old girl with a pathogenic mutation (515insC) of the ATP‐binding cassette, subfamily D, member 1 gene ( ABCD1 ) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the paternally derived X chromosome. A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X‐linked adrenoleukodystrophy heterozygotes.