Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome

Daniela Di Benedetto, Sebastiano Antonino Musumeci, Emanuela Avola, Antonino Alberti, Serafino Buono, Carmela Scuderi, Lucia Grillo, Ornella Galesi, Angela Spalletta, Mariangela Lo Giudice, Daniela Luciano, Mirella Vinci, Sebastiano Bianca, Corrado Romano, Marco Fichera

Research output: Contribution to journalArticlepeer-review


Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the GRIA3 and STAG2 genes have been reported. These Xq25 microduplications are associated with a recognizable syndrome including intellectual disability and distinctive facial appearance. We report on Xq25 microduplications in two unrelated families identified by array comparative genomic hybridization. In both families, the genomic imbalances segregated with the disease in male individuals, while the phenotypes of the heterozygous females appeared to be modulated by their X-inactivation pattern. These rearrangements of about 600kb involved only three genes: THOC2, XIAP, and STAG2. Further characterization by FISH analyses showed tandem duplication in the Xq25 locus of these genes. These data refine the Xq25 candidate region, identifying a minimal duplicated region of about 270kb encompassing the XIAP and STAG2 genes. We discuss the function of the genes in the rearrangements and their involvement in the pathogenesis of this disorder.

Original languageEnglish
Pages (from-to)1923-1930
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
Publication statusPublished - 2014


  • Array-CGH
  • STAG2
  • THOC2
  • XIAP
  • Xq25 microduplication syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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