Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome. Issue 8 (14th April 2014)

• Record Type: Journal Article
• Authors: Di Benedetto, Daniela; Musumeci, Sebastiano Antonino; Avola, Emanuela; Alberti, Antonino; Buono, Serafino; Scuderi, Carmela; Grillo, Lucia; Galesi, Ornella; Spalletta, Angela; Giudice, Mariangela Lo; Luciano, Daniela; Vinci, Mirella; Bianca, Sebastiano; Romano, Corrado; Fichera, Marco
• Is Part Of: American journal of medical genetics. Volume 164:Issue 8(2014.)
• Page Start: 1923
• Page End: 1930
• Publication Date: 2014-04-14
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36570
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36570-sec-0001" sec-type="section"> <p>Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the <italic>GRIA3</italic> and <italic>STAG2</italic> 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 600 kb involved only three genes: <italic>THOC2</italic>, <italic>XIAP</italic>, and <italic>STAG2</italic>. 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 270 kb encompassing the <italic>XIAP</italic> and <italic>STAG2</italic> genes. We discuss the function of the genes in the rearrangements and their involvement in the pathogenesis of this disorder. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>