دورية
Germline variant in Ctcflinks mental retardation to Wilms tumor predisposition
| العنوان: | Germline variant in Ctcflinks mental retardation to Wilms tumor predisposition |
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| المؤلفون: | Gargallo, Pablo, Oltra, Silvestre, Tasso, María, Balaguer, Julia, Yáñez, Yania, Dolz, Sandra, Calabria, Inés, Martínez, Francisco, Segura, Vanessa, Juan-Ribelles, Antonio, Llavador, Margarita, Castel, Victoria, Cañete, Adela, Font de Mora, Jaime |
| المصدر: | European Journal of Human Genetics: EJHG; November 2022, Vol. 30 Issue: 11 p1288-1291, 4p |
| مستخلص: | CTCFgermline mutations have been related to MRD21. We report the first bilateral Wilms tumor suffered by a MRD21 patient carrying an unreported CTCFmissense variant in a zinc finger domain of CTCF protein. We found that germline heterozygous variant I446K became homozygous in the tumor due to a loss of heterozygosity rearrangement affecting the whole q arm on chromosome 16. Our findings propose CTCFI446K variant as a link between MRD21 and Wilms tumor predisposition. |
| قاعدة البيانات: | Supplemental Index |
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Full Text Finder | تدمد: | 10184813 14765438 |
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| DOI: | 10.1038/s41431-022-01105-x |