A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (ALD ; MIM #300100 ) is a neurodegenerative disorder caused by mutations in the ABCD 1 adrenoleukodystrophy protein gene . The ABCD 1 gene mutations have been reported by laboratories in China and Japan , but not in Korea . This case report describes a Korean boy diagnosed with X-ALD . Direct sequencing for the ABCD 1 gene in this boy and his mother detected Tyr 620 His missense mutation , caused by cDNA nucleotide change 1858 T >C in exon 8 (c .1858 T >C ). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software . Moreover , this is the first report in Korean .