Germline variant in Ctcf links mental retardation to Wilms tumor predisposition

• Published in: European journal of human genetics : EJHG Vol. 30; no. 11; pp. 1288 - 1291
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-11-2022; Springer International Publishing
• Subjects: Brief Communication; Chromosome 16; Chromosomes; CTCF protein; DNA methylation; Genes; Germ Cells; Heterozygosity; Humans; Intellectual disabilities; Intellectual Disability; Kidney Neoplasms - genetics; Loss of heterozygosity; Medical research; Mutation; Patients; Tumors; Wilms Tumor - genetics; Zinc finger proteins; Zinc Fingers - genetics
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/s41431-022-01105-x

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.