Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome
| Autor: | Daniela Di Benedetto, Emanuela Avola, Ornella Galesi, Carmela Scuderi, Mariangela Lo Giudice, Sebastiano Bianca, Antonino Alberti, Mirella Vinci, Lucia Grillo, Sebastiano A. Musumeci, Marco Fichera, Angela Spalletta, Corrado Romano, Daniela Luciano, Serafino Buono |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Adolescent Cell Cycle Proteins Trisomy X-Linked Inhibitor of Apoptosis Protein Locus (genetics) Chromosome Breakpoints Young Adult Chromosome Duplication Intellectual disability Genetics medicine Humans GRIA3 Child Gene Genetic Association Studies Sex Chromosome Aberrations Genetics (clinical) Aged Chromosomes Human X Comparative Genomic Hybridization biology Brain Chromosome Mapping Facies Antigens Nuclear Exons Syndrome Middle Aged medicine.disease Magnetic Resonance Imaging Phenotype Pedigree XIAP Child Preschool biology.protein Female Tandem exon duplication Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. 164:1923-1930 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.36570 |
| Popis: | 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 600 kb 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 270 kb 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. |
| Databáze: | OpenAIRE |
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