Clinical and genetic findings of five patients with WT1-related disorders

To present phenotypic variability of WT1-related disorders. Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. 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 11...

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Bibliographic Details
Published in:Arquivos brasileiros de endocrinologia e metabologia 2008-11, Vol.52 (8), p.1236-1243
Main Authors: Andrade, Juliana Gabriel R de, Guaragna, Mara Sanches, Soardi, Fernanda Caroline, Guerra-Júnior, Gil, Mello, Maricilda Palandi de, Maciel-Guerra, Andréa Trevas
Format: Article
Language:eng ; por
Subjects:
Adolescent
Amenorrhea - diagnosis
Child
ENDOCRINOLOGY & METABOLISM
Fatal Outcome
Female
Frasier Syndrome - diagnosis
Frasier Syndrome - genetics
Genes, Wilms Tumor
Genitalia - abnormalities
Genitalia - pathology
Heterozygote
Humans
Infant
Infant, Newborn
Kidney Neoplasms - diagnosis
Kidney Neoplasms - genetics
Male
Phenotype
Renal Insufficiency, Chronic - diagnosis
WT1 Proteins - genetics
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Summary:To present phenotypic variability of WT1-related disorders. Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. 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. 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.
ISSN:0004-2730
1677-9487
1677-9487
0004-2730
DOI:10.1590/S0004-27302008000800006