Germline variant in Ctcf links mental retardation to Wilms tumor predisposition.


Por: 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

Publicada: 1 nov 2022 Ahead of Print: 22 abr 2022
Resumen:
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.

Filiaciones:
Gargallo P:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain.

 Oncology Department - Health in Code Group, Paterna, Valencia, Spain.

Oltra S:
 Genetics Unit, La Fe Hospital, Valencia, Spain

 Genetics Department, Valencia University, Valencia, Spain

:
 Pediatric Oncology Unit, General University Hospital of Alicante, Alicante, Spain

Balaguer J:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

 Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain

Yáñez Y:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

Dolz S:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

Calabria I:
 Oncology Department - Health in Code Group, Paterna, Valencia, Spain

Martínez F:
 Genetics Unit, La Fe Hospital, Valencia, Spain

Segura V:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

Juan-Ribelles A:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

 Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain

Llavador M:
 Pathology Department, La Fe University Hospital, Valencia, Spain

Castel V:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

Cañete A:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

 Pediatric Oncology and Hematology Unit, La Fe University Hospital, Valencia, Spain

Font de Mora J:
 Clinical and Translational Research in Cancer, La Fe Health Research Institute, Valencia, Spain

 Laboratory of Cellular and Molecular Biology, La Fe Health Research Institute, Valencia, Spain
ISSN: 10184813





EUROPEAN JOURNAL OF HUMAN GENETICS
Editorial
Natue Publishing Group, MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND, Reino Unido
Tipo de documento: Article
Volumen: 30 Número: 11
Páginas: 1288-1291
WOS Id: 000786065800001
ID de PubMed: 35459888

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