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Gene. 2012 Apr 25;498(1):131-3. doi: 10.1016/j.gene.2012.01.063. Epub 2012 Feb 1.

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

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  • 1Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea.


X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 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 ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>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.

Copyright © 2012 Elsevier B.V. All rights reserved.

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