We present the first reported case of Menkes disease caused by an Alu element 
insertion mutation that interfered with splicing regulatory elements. A whole 
young AluYa5a2 element, which was 382-bp long, was identified within exon 9 of 
the ATP7A gene, and all of exon 9 was aberrantly skipped in the cDNA, resulting 
in severely truncated proteins. To confirm whether the aberrant skipping 
resulted in Alu insertion, an exonic splicing enhancer finder was used. The Alu 
element created two new high-score exonic splicing enhancer sequences in the 
mutation located near the site of the insertion. Exon 9, which encodes the first 
and second transmembrane domains, is necessary for the normal function of the 
ATP7A protein.