Ann Neurol. 2002 Aug;52(2):234-7.

Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.

Hershkovitz E, Narkis G, Shorer Z, Moser AB, Watkins PA, Moser HW, Manor E.

Source

Pediatric Department, Soroka University Medical Centre, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel. elih@bgumail.bgu.ac.il

Abstract

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.

PMID:: 12210797; [PubMed - indexed for MEDLINE]

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