The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms
| Autor: | Christian R. Marshall, Wayne Loo, Lucy R. Osborne, Stephen W. Scherer, Colleen A. Morris, Edwin J. Young, Elaine Tam, Carolyn B. Mervis |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Williams Syndrome congenital hereditary and neonatal diseases and abnormalities Adolescent Intelligence Population Gene Dosage Gene Expression Penetrance Biology Article Diagnosis Differential Gene duplication Genetics medicine Humans Copy-number variation education Genetics (clinical) DNA Primers Sequence Deletion Chromosomal inversion Behavior education.field_of_study Base Sequence Genetic Variation Chromosome medicine.disease Phenotype Chromosome Inversion Female Williams syndrome Differential diagnosis Chromosomes Human Pair 7 |
| Zdroj: | American Journal of Medical Genetics Part A. :1797-1806 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv-1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv-1. We show that individuals with clinical symptoms and WBSinv-1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv-1 and clinical symptoms. We also demonstrate that individuals with WBSinv-1 show normal expression of genes from the WBS region. These results suggest that WBSinv-1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. |
| Databáze: | OpenAIRE |
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