Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties
| العنوان: | Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties |
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| المؤلفون: | Angela Barnicoat, John C K Barber, Ann Jackson, Viv K. Maloney, N. Simon Thomas, David J. Bunyan, Joanne Gilmore, Shuwen Huang, Mary Glancy, Sharon de Souza, Rajan Vijeratnam |
| المصدر: | European Journal of Human Genetics. 17:37-43 |
| بيانات النشر: | Springer Science and Business Media LLC, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Adult, Male, Candidate gene, MICROCEPHALIN, Mothers, Cell Cycle Proteins, Nerve Tissue Proteins, Biology, Article, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Language Development Disorders, Multiplex ligation-dependent probe amplification, Autistic Disorder, education, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosomal inversion, education.field_of_study, Epilepsy, Learning Disabilities, Breakpoint, Chromosome Mapping, medicine.disease, Cytoskeletal Proteins, Mutagenesis, Insertional, Child, Preschool, Karyotyping, Speech delay, Autism, Female, medicine.symptom, Chromosomes, Human, Pair 8 |
| الوصف: | Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an unusual degree of structural complexity. Here, we present a duplication of 8p23.1-8p23.2 ascertained in a child with speech delay and a diagnosis of ICD-10 autism. The same duplication was found in his mother who had epilepsy and learning problems. A combination of cytogenetic, FISH, microsatellite, MLPA and oaCGH analysis was used to show that the duplication extended over a minimum of 6.8 Mb between 3 539 893 and 10 323 426 bp. This interval contains 32 novel and 41 known genes, of which only microcephalin (MCPH1) is a plausible candidate gene for autism at present. The distal breakpoint of the duplicated region interrupts the CSMD1 gene in 8p23.2 and the medial breakpoint lies between the MSRA and RP1L1 genes in 8p23.1.An interchromosomal insertion between a normal and polymorphically inverted chromosome 8 is proposed to explain the origin of this duplication. Further mapped imbalances of distal 8p are needed to determine whether the autistic component of the phenotype in this family results from the cumulative imbalance of many genes or dosage imbalance of an individual susceptibility gene. |
| تدمد: | 1476-5438 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b3b3142349ff8e21d1f7876e8f1f56Test https://doi.org/10.1038/ejhg.2008.133Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....86b3b3142349ff8e21d1f7876e8f1f56 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 10184813 |
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