Retracted : Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy

Abstract

We report the molecular findings in 14 patients (12 families) with X-linked adrenoleukodystrophy (X-ALD, MIM# 300100), a well-defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28. With the aims of determining the spectrum of mutations and developing an efficient molecular genetic test for analysis of at-risk women whose carrier status is unknown, and to offer molecular confirmation of their status to obligate heterozygotes, regardless of their clinical status, we carried out molecular screening by setting up a denaturing high-performance liquid chromatography (DHPLC)-based protocol. We identified eleven hemizygous base changes in ABCD1, including seven new mutations (c

Discordant diagnoses obtained by different approaches in antithrombin mutation analysis

“…Importantly, we cannot exclude that the lack of sensitivity observed in this study is specifically linked to our DHPLC setup. DHPLC has been used for mutation screening of numerous disease genes including TP53 [8], ABCD1 [9] and CFTR [10] and has been shown to be very sensitive with potential detection rates of N95-100% [11]. But our study underscores that thorough validation is necessary when using DHPLC for mutation screening and the outcome of mutation analysis may indeed depend on the methodology used.…”

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family

“…In order to obtain the primer sequences used in the experiments, three articles were used as reference: Boehm et al, 1999;Montagna et al, 2005, andPan et al, 2005. Using softwares to design and analyze primers -Primer3 (http://frodo. wi.mit.edu/primer3/) and NetPrimer (http://www.premierbiosoft.com/netprimer/netprlaunch/netprlaunch.html) -we selected the best primer pairs for this research.…”

Adrenoleukodystrophy

“…Deletion/duplication analysis identifies deletions/duplications not detectable by sequence analysis of genomic DNA; a variety of methods including Southern blot, quantitative PCR, real-time PCR, multiplex ligation-dependent probe amplification, and array CGH may be used. Most of the individuals without an ABCD1 mutation identified by sequence analysis have a gene deletion detected by Southern blot analysis [7,8].…”