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

详细信息	查看全文 | 推荐本文 |

• 作者：Jeong A. Park^a ; Kyung Ran Jun^b ; Sung-Hee Han^c ; Gu-Hwan Kim^d ; Han-Wook Yoo^d ; Yun Jung Hur^a ; ^{H00105@paik.ac.kr}
• 关键词：ALD ; adrenoleukodystrophy ; VLCFA ; very long chain fatty acids ; ALDP ; adrenoleukodystrophy protein ; PCR ; polymerase chain reaction ; cALD ; cerebral variant adrenoleukodystrophy
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：25 April, 2012
• 卷：498
• 期：1
• 页码：131-133
• 文件大小：212 K

摘要

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.