Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome

Eugenia Borgione, Maurizio Sturnio, Angela Spalletta, Maria Angela Lo Giudice, Lucia Castiglia, Ornella Galesi, Angela Ragusa, Marco Fichera

Research output: Contribution to journalArticlepeer-review


Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features. Alpha thalassemia is frequent but does not represent a constant characteristic of the syndrome. An expanding phenotype of the ATRX gene (a RAD54 homologue encoding a putative zinc-finger helicase) has been demonstrated as a result of the association of single mutations with specific X-linked mental retardation syndromes. To date, mutational analysis of the gene has been based on direct DNA sequencing or using methods with a lower detection rate. In this paper, we present a broad-range DGGE method for single-step mutation scanning of the entire open reading frame (ORF) and canonical splice sites of the gene. Using this method, we successfully identified five novel sequence changes in the ATRX gene, including four missense mutations (K1733E, R2085C, D2136N, T2169A) and one polymorphism (IVS5+35G>A).

Original languageEnglish
Pages (from-to)529-534
Number of pages6
JournalHuman Mutation
Issue number5
Publication statusPublished - 2003


  • ATRX
  • DGGE
  • Helicase
  • Mental retardation
  • Mutation scanning
  • RAD54
  • Thalassemia, alpha
  • X-linked
  • X-linked nuclear protein
  • XH2
  • XLMR
  • XNP
  • Zinc-finger

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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