title: Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.
abstract: The gene for X-linked adrenoleukodystrophy (ALD) was recently identified. Intragenic deletions of several kilobases were found in about 7% of patients. Point mutations, expected to be very heterogeneous, were identified so far in only two patients. We report the identification of a two base pair deletion at position 1801-1802 of the ALD cDNA, located within the fifth exon of the ALD gene, which precedes the two consensus motives for ATP-binding. This microdeletion was found in five out of 40 unrelated ALD kindreds, indicating that this position is a hot spot for mutations. The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN).
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Kemp
authors.forename: M J
authors.initials: MJ
authors.lastname: Ligtenberg
authors.forename: B M
authors.initials: BM
authors.lastname: van Geel
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: R A
authors.initials: RA
authors.lastname: Wolterman
authors.forename: F
authors.initials: F
authors.lastname: Schoute
authors.forename: C O
authors.initials: CO
authors.lastname: Sarde
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D000255:Adenosine Triphosphate / Q000378:metabolism; D000326:Adrenoleukodystrophy / Q000235:genetics*; D001482:Base Composition; D001483:Base Sequence; D001665:Binding Sites; D002352:Carrier Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D016384:Consensus Sequence; D018076:DNA, Complementary / Q000737:chemistry; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D002352:Carrier Proteins; D018076:DNA, Complementary; D008565:Membrane Proteins; D000255:Adenosine Triphosphate