10q23.31 microduplication encompassing
| Autor: | Danyllo, Oliveira, Gabriela Ferraz, Leal, Andréa L, Sertié, Luiz Carlos, Caires, Ernesto, Goulart, Camila Manso, Musso, João Ricardo Mendes de, Oliveira, Ana Cristina Victorino, Krepischi, Angela Maria, Vianna-Morgante, Mayana, Zatz |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Adolescent DNA Copy Number Variations Chromosomes Human Pair 10 TOR Serine-Threonine Kinases PTEN Phosphohydrolase Infant Neuroimaging Magnetic Resonance Imaging Pedigree Young Adult Child Preschool Chromosome Duplication Exome Sequencing Microcephaly Humans Female Child Signal Transduction |
| Zdroj: | Journal of medical genetics. 56(8) |
| ISSN: | 1468-6244 |
| Popis: | Hereditary primary microcephaly (MCPH) is mainly characterised by decreased occipitofrontal circumference and variable degree of intellectual disability. MCPH with a dominant pattern of inheritance is a rare condition, so far causally linked to pathogenic variants in theThis study aimed at identifying the causative variant of the autosomal dominant form of MCPH in a Brazilian family with three affected members.Following clinical evaluation of two sibs and their mother presenting with autosomal dominant MCPH, array comparative genome hybridisation was performed using genomic DNA from peripheral blood of the family members. Gene and protein expression studies were carried out in cultured skin fibroblasts.A 382 kb microduplication at 10q23.31 was detected, encompassing the entireTaken together, our results demonstrate that the identified submicroscopic 10q23.31 duplication in a family with MCPH leads to markedly increased expression of |
| Databáze: | OpenAIRE |
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