1. Germline variant in Ctcf links mental retardation to Wilms tumor predisposition.
- Author
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Gargallo P, Oltra S, Tasso M, Balaguer J, Yáñez Y, Dolz S, Calabria I, Martínez F, Segura V, Juan-Ribelles A, Llavador M, Castel V, Cañete A, and Font de Mora J
- Subjects
- Humans, Zinc Fingers genetics, Germ Cells, Intellectual Disability, Wilms Tumor genetics, Kidney Neoplasms genetics
- Abstract
CTCF germline mutations have been related to MRD21. We report the first bilateral Wilms tumor suffered by a MRD21 patient carrying an unreported CTCF missense 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 CTCF I446K variant as a link between MRD21 and Wilms tumor predisposition., (© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.) more...
- Published
- 2022
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