Germline DICER1 mutations and familial cystic nephroma
| Autor: | Thomas Rio Frio, Gretchen M. Williams, Ahmet Yilmaz, William D. Foulkes, Marc Tischkowitz, Nancy Hamel, Amin Bahubeshi, John R. Priest, Carly Pouchet, Dorothée Bouron-Dal Soglio, Nebil Bal |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Ribonuclease III Adolescent DNA Mutational Analysis Molecular Sequence Data Pleuropulmonary blastoma Biology medicine.disease_cause Germline DEAD-box RNA Helicases Young Adult Germline mutation Genetics medicine Humans Kidney tumour Family Child Genetics (clinical) Germ-Line Mutation DICER1 Syndrome Mutation Base Sequence Cystic nephroma Infant Kidney Diseases Cystic Middle Aged medicine.disease Stop codon Kidney Neoplasms Pedigree Child Preschool Female |
| Zdroj: | Journal of medical genetics. 47(12) |
| ISSN: | 1468-6244 |
| Popis: | Background Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. Objective To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Results Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. Conclusion It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis. |
| Databáze: | OpenAIRE |
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