A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.

[adrenomyeloneuropathy]

The ABCD 1 gene mutation (previously ALD ) has been reported in China , but not previously in Taiwan . This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy . Direct sequencing for the ABCD 1 gene of this patient and his mother detected a novel missense mutation , K 513 Q , in exon 6 , the first such detected in a Taiwanese patient . Previous studies have suggested exon 6 as a possible hot segment of ABCD 1 gene mutations in Chinese populations ; however , most of the mutations in exon 6 presented as childhood cerebral adrenoleukodystrophy . K 513 Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese -Taiwanese .