Inherited WT1 mutation in Denys-Drash syndrome

Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation a...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1992-11, Vol.52 (21), p.6125-6128
Main Authors: COPPES, M. J, LIEFERS, G. J, HIGUCHI, M, ZINN, A. B, WILLIAMSON BALFE, J, WILLIAMS, B. R. G
Format: Article
Language:English
Subjects:
Adolescent
Amino Acid Sequence
Biological and medical sciences
Child
Chromosomes, Human, Pair 11
Denys-Drash syndrome
Exons
Female
Genes, Wilms Tumor - genetics
Genitalia, Female - abnormalities
Genitalia, Male - abnormalities
Humans
inheritance
Kidney Diseases - genetics
Kidney Neoplasms - genetics
Kidneys
Male
man
Medical sciences
Molecular Sequence Data
mutation
Mutation - genetics
Nephrology. Urinary tract diseases
Syndrome
tumor suppressor genes
Tumors of the urinary system
Wilms Tumor - genetics
Wilms' tumor
WT1 gene
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Summary:Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation. However, unlike patients in previous reports, one of our three patients inherited the affected allele from his phenotypically unaffected father. This observation indicates that the WT1 exon 9 mutation affecting 394Arg demonstrated in over one-half of the patients with the Denys-Drash syndrome may exhibit incomplete penetrance. Consequently, familial studies in patients affected by this syndrome are recommended.
ISSN:0008-5472
1538-7445