17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation
| Autor: | Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Marshall Italo Barros Fontes, Fernando Cendes, Tânia Kawasaki de Araujo, Ana Paula Santos, Iscia Lopes-Cendes, Simone Appenzeller, Fábio R. Torres |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics Microarray Biology Bioinformatics 03 medical and health sciences PAFAH1B1 Adapter molecule crk 030104 developmental biology 0302 clinical medicine Gene interaction Chromosomal region Original Article Haploinsufficiency YWHAE Gene 030217 neurology & neurosurgery Genetics (clinical) |
| Popis: | Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities of the brain and other associated dysmorphic features. Here, we describe a 3-year-old boy with a microdeletion in 17p13.3 presenting with minor facial dysmorphisms, a cleft palate, neurodevelopmental delay, and behavioral disorder with no structural malformation of the brain. The patient was evaluated by a clinician using a standard protocol. Laboratory investigation included GTG-banding, whole-genome AGH, and array-CGH. Whole-genome AGH and array-CGH analysis identified an estimated 2.1-Mb deletion in the 17p13.3 region showing haploinsufficiency of the YWHAE, CRK, H1C1, and OVCA1 genes and no deletion of PAFAH1B1. The complex gene interaction on brain development and function is illustrated in the genotype-phenotype correlation described here. This report reinforces the importance of the 17p13.3 region in developmental abnormalities and highlights the weak implication of the HIC1 and OVCA1 genes in palatogenesis. |
| Databáze: | OpenAIRE |
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