Clinical utility gene card for: Adrenoleukodystrophy

European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.193; published online 9 November 20111. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN),Addison disease and cerebral sclerosis, melanodermic leuko-dystrophy.1.2 OMIM# of the disease300100 (ALD).1.3 Name of the analysed genes or DNA/chromosome segmentsABCD1.1.4 OMIM# of the gene(s)300371 (ABCD1).1.5 Mutational spectrumMainly (about 71%) point mutations, spread over all 10 exons.Approximately 26% smaller rearrangements (mainly insertions anddeletions affecting o20 base pairs), 3% deletions of one exon or moreexons. The majority of the families have a unique (‘private’) mutation,the rate of de novo mutations is about 5%.