Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.
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).
Kemp
S
S
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Ligtenberg
M J
MJ
van Geel
B M
BM
Barth
P G
PG
Wolterman
R A
RA
Schoute
F
F
Sarde
C O
CO
Mandel
J L
JL
van Oost
B A
BA
Bolhuis
P A
PA
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
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