RGD Reference Report - Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. - Rat Genome Database
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Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

Authors: Kemp, S  Ligtenberg, MJ  Van Geel, BM  Barth, PG  Wolterman, RA  Schoute, F  Sarde, CO  Mandel, JL  Van Oost, BA  Bolhuis, PA 
Citation: Kemp S, etal., Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53.
RGD ID: 1598655
Pubmed: (View Article at PubMed) PMID:8048932

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).

Annotation

Disease Annotations    
adrenoleukodystrophy  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Abcd1  (ATP binding cassette subfamily D member 1)

Genes (Mus musculus)
Abcd1  (ATP-binding cassette, sub-family D (ALD), member 1)

Genes (Homo sapiens)
ABCD1  (ATP binding cassette subfamily D member 1)


Additional Information