Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea.
Gene. 2012 Apr 25;498(1):131-3. doi: 10.1016/j.gene.2012.01.063. Epub 2012 Feb 1.
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.
X 连锁肾上腺脑白质营养不良（ALD；MIM#300100）是一种由 ABCD1 肾上腺脑白质营养不良蛋白基因突变引起的神经退行性疾病。中国和日本的实验室已经报道了 ABCD1 基因突变，但韩国没有报道。本病例报告描述了一名被诊断为 X-ALD 的韩国男孩。对该男孩及其母亲的 ABCD1 基因进行直接测序，发现第 8 外显子（c.1858T>C）的 cDNA 核苷酸变化 1858 T>C 导致 Tyr620His 错义突变。这种错义变体是新的，被 PolyPhen 和 SIFT 预测软件预测为可能有害。此外，这是在韩国的首例报告。
