Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

Giorgia Montagna, Antonella Di Biase, Marco Cappa, M. A. Melone, Carlo Piantadosi, Diego Colabianchi, Clarice Patrono, Lucilla Attori, Natalia Cannelli, Roberto Cotrufo, Serafina Salvati, Filippo M. Santorelli

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.145underscore;146ins4, c.264C>G, c.919C>T, c.994C>T, c.1027G>A, c.1508T>C, and c.1540A>C, resulting in the p.Pro193fs, p.Cys88Trp, p.Gln307X, p.Gln332X, p.Gly343Ser, p.Leu503Pro, and p.Ser514Arg changes, respectively). Adding new variants to the repertoire of ABCD1 mutations in X-ALD, our data provide an efficient, cost-effective, and reliable DHPLC detection protocol for mutation screening of X-ALD families. (c) 2005 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)222
Number of pages1
JournalHuman Mutation
Volume25
Issue number2
Publication statusPublished - Feb 2005

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Adrenoleukodystrophy
High Pressure Liquid Chromatography
Mutation
Peroxisomal Disorders
Heterozygote
Molecular Biology
Chromosomes
Costs and Cost Analysis
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Montagna, G., Di Biase, A., Cappa, M., Melone, M. A., Piantadosi, C., Colabianchi, D., ... Santorelli, F. M. (2005). Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. Human Mutation, 25(2), 222.

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. / Montagna, Giorgia; Di Biase, Antonella; Cappa, Marco; Melone, M. A.; Piantadosi, Carlo; Colabianchi, Diego; Patrono, Clarice; Attori, Lucilla; Cannelli, Natalia; Cotrufo, Roberto; Salvati, Serafina; Santorelli, Filippo M.

In: Human Mutation, Vol. 25, No. 2, 02.2005, p. 222.

Research output: Contribution to journalArticle

Montagna, G, Di Biase, A, Cappa, M, Melone, MA, Piantadosi, C, Colabianchi, D, Patrono, C, Attori, L, Cannelli, N, Cotrufo, R, Salvati, S & Santorelli, FM 2005, 'Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.', Human Mutation, vol. 25, no. 2, pp. 222.
Montagna, Giorgia ; Di Biase, Antonella ; Cappa, Marco ; Melone, M. A. ; Piantadosi, Carlo ; Colabianchi, Diego ; Patrono, Clarice ; Attori, Lucilla ; Cannelli, Natalia ; Cotrufo, Roberto ; Salvati, Serafina ; Santorelli, Filippo M. / Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. In: Human Mutation. 2005 ; Vol. 25, No. 2. pp. 222.
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