6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
| Autor: | Muriel Payet, Christel Thauvin-Robinet, Nabila Dhouibi, Laurence Faivre, Bernard Aral, Marie Eliade, Candace Bensignor, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Azarnouche Ardalan, Sylviane Ragot, Nathalie Marle, Clémence Ragon, Laurent Desch, Julien Thevenon, Patrick Callier |
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| Jazyk: | angličtina |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Prader-Willi-like syndrome 6q16.3q23.3 Case Report Bioinformatics Biochemistry Gene duplication medicine Genetics Genetics(clinical) Overeating Molecular Biology Genetics (clinical) Biochemistry medical business.industry Biochemistry (medical) Cytogenetics nutritional and metabolic diseases Complex sSMC Array-CGH medicine.disease Obesity Phenotype Human genetics Hypotonia nervous system diseases PRADER-WILLI-LIKE SYNDROME Molecular Medicine medicine.symptom business |
| Zdroj: | Molecular Cytogenetics |
| ISSN: | 1755-8166 |
| DOI: | 10.1186/s13039-015-0151-6 |
| Popis: | Background Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). Case presentation We report a 14-year-old boy with a complex small supernumerary marker chromosome (sSMC) associated with PWLS. The propositus presents clinical features commonly found in patients with PWLS, including growth hormone deficit. Banding karyotype analysis and fluorescence in situ hybridization (FISH) revealed a marker derived from chromosome 6 and a neocentromere as suspected, but array-CGH enabled us to characterize this marker as a der(10)t(6;10)(6qter → 6q23.3::10p11.1 → 10p11.21)dn. As far as we know, this is the first diagnosed case of PWLS associated with a complex sSMC, involving a 30.9 Mb gain in the 6q16.3q23.3 region and a 3.5 Mb gain in the 10p11.21p11.1 region. Several genes have been mapped to the 6q region including the TCBA1 gene, which is associated with developmental delay and recurrent infections, the ENPP1 gene, associated with insulin resistance and susceptibility to obesity and the BMIQ3 gene, associated with body mass index (BMI). No OMIM gene was found in the smallest 10p11.21p11.1 region. Conclusions We suggest that the duplicated chromosome segment 6q16.3q23.3 may be responsible for the phenotype of our case and may also be a candidate locus of PWLS. |
| Databáze: | OpenAIRE |
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