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Published on: August 15, 2019
Clinical and genetic findings of five patients with WT1-related disorders
Juliana Gabriel R de Andrade1, Mara Sanches Guaragna, Fernanda Caroline Soardi
1Universidade de Campinas, SP, Brasil.
Aim:
To present phenotypic variability of WT1-related disorders.
Methods:
Description of clinical and genetic features of five 46,XY patients with WT1 anomalies.
Results:
Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotrophic hypogonadism; patient 2 had a gonadoblastoma. The heterozygous IVS9+4, C>T mutation, compatible with Frasier syndrome was detected. Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and mental deficiency; a heterozygous 11p deletion, compatible with WAGR syndrome was detected. Patient 5: 2 months old, same diagnosis of patient 4; he developed WT at the age of 8 months.
Conclusions:
Constitutional abnormalities of WT1 cause gonadal and renal anomalies and predisposition to neoplasia and must be investigated in patients with ambiguous genitalia, chronic renal disease and(or) Wilms tumors; primary amenorrhea with chronic renal disease; and aniridia, genital ambiguity and dysmorphisms.
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