Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.
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.
Hershkovitz
Eli
E
Pediatric Department, Soroka University Medical Centre, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel. elih@bgumail.bgu.ac.il
Narkis
Ginat
G
Shorer
Zamir
Z
Moser
Ann B
AB
Watkins
Paul A
PA
Moser
Hugo W
HW
Manor
Esther
E
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000601:surgery; D016026:Bone Marrow Transplantation; D054422:Chemokine CCL22; D019742:Chemokines, CC / Q000235:genetics*; D002648:Child; D020732:Cytogenetic Analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016896:Treatment Outcome; D014960:X Chromosome / Q000235:genetics
C515482:CCL22 protein, human; D054422:Chemokine CCL22; D019742:Chemokines, CC