The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome

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2010-08-01
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Guaragna, Mara Sanches
Soardi, Fernanda Caroline
Assumpcao, Juliana Godoy
Zambaldi, Lilian de Jesus Girotto
Cardinalli, Izilda Aparecida
Yunes, Jose Andres
Mello, Maricilda Palandi de [UNIFESP]
Brandalise, Silvia Regina
Aguiar, Simone dos Santos
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Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT > AAT within exon 8, causing the substitution of an asparagine for a histidine at residue 377. the p.H377N mutation is predicted to diminish the WT1 protein DNA-binding affinity as it might disrupt the normal zinc finger 2 conformation.
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Journal of Pediatric Hematology Oncology. Philadelphia: Lippincott Williams & Wilkins, v. 32, n. 6, p. 486-488, 2010.
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