AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation
| Autor: | B. Leheup, M. Béri, Céline Bonnet, Philippe Jonveaux, Marie-José Grégoire, Christophe Philippe |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Genetics Polymorphism Genetic Base Sequence biology Molecular Sequence Data Phenotype Pedigree Frameshift mutation Young Adult Exon X Chromosome Inactivation Gene Duplication Gene duplication Mental Retardation X-Linked biology.protein Humans Female Receptors AMPA Tandem exon duplication Allele GRIA3 Genetics (clinical) X chromosome |
| Zdroj: | American Journal of Medical Genetics Part A. :1280-1289 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32858 |
| Popis: | Investigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR. We report on a family with a genomic duplication at Xq25 identified by oligo array-CGH. Further characterization showed a partial tandem duplication of GRIA3 extending from exon 1 to exon 12. This duplication is present in two brothers with MR and on one allele in their sister with normal phenotype and completely skewed X-chromosome inactivation. The duplication is inherited from the mother, whose cognitive level is low and X-chromosome inactivation is random. This is the second family with partial duplication of GRIA3 associated with MR. GRIA3 expression studies in our case demonstrated a new mechanism for GRIA3 dysfunction with the presence of aberrant GRIA3 transcripts carrying multi-exon duplications leading to a frameshift. Our study gives additional support to the implication of GRIA3 in X-linked MR. |
| Databáze: | OpenAIRE |
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