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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.
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).


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RGD Object Information
RGD ID: 1598655
Created: 2006-12-09
Species: All species
Last Modified: 2006-12-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.