title: A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.
abstract: The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first such detected in a Taiwanese patient. Previous studies have suggested exon 6 as a possible hot segment of ABCD1 gene mutations in Chinese populations; however, most of the mutations in exon 6 presented as childhood cerebral adrenoleukodystrophy. K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.
authors.affiliation: The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Yo-Tsen
authors.initials: YT
authors.lastname: Liu
authors.forename: Kang-Hsu
authors.initials: KH
authors.lastname: Lin
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
authors.forename: Kwong-Kum
authors.initials: KK
authors.lastname: Liao
authors.forename: Kon-Ping
authors.initials: KP
authors.lastname: Lin
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000208:ethnology* / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D013624:Taiwan
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters