ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy

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• 作者：Yan-Fang Niu^a ; ^b ; ^c ; ¹ ; Wang Ni^a ; ^b ; ^c ; ¹ ; Zhi-Ying Wu^a ; ^b ; ^{zhiyingwu@fudan.edu.cn}
• 关键词：X-ALD ; X-linked adrenoleukodystrophy ; CCALD ; childhood cerebral adrenoleukodystrophy ; ACALD ; adult form adrenoleukodystrophy ; AMN ; adrenomyeloneuropathy ; AO ; Addison-only ; CNS ; central nervous system ; MRI ; magnetic resonance imaging ; CER ; cerebral ; PCR ; p
• 刊名：Gene
• 出版年：2013
• 出版时间：10 June, 2013
• 年：2013
• 卷：522
• 期：1
• 页码：117-120
• 全文大小：413 K

文摘

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder resulting from mutations within the ABCD1 gene. Adrenomyeloneuropathy (AMN) and childhood cerebral ALD (CCALD) are most common phenotypes in the Western ALD patients. Here we performed mutation analysis of ABCD1 in 10 Chinese ALD families and identified 8 mutations, including one novel deletion (c.1477_1488 + 11del23) and 7 known mutations. Mutations c.1772G>A and c.1816T>C were first reported in the Chinese patients. Mutations c.1661G>A and c.1679C>T were demonstrated to be de novo mutations. The dinucleotide deletion 1415_16delAG, described as a mutational hotspot in different ethnic groups, was identified in two families. In addition, we performed a retrospective nation-wide mutation study of X-linked ALD in China based on a literature review. The retrospective study further confirmed the hypothesis that exon 6 is a potential mutation cluster region in the Asian populations. Furthermore, it suggested that CCALD is the most common phenotype in China.