{"id":27190,"date":"2024-05-26T16:38:26","date_gmt":"2024-05-26T14:38:26","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27190"},"modified":"2025-08-27T10:50:57","modified_gmt":"2025-08-27T08:50:57","slug":"wt1-associated-syndromes","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/wt1-associated-syndromes\/","title":{"rendered":"WT1-Associated Syndromes"},"content":{"rendered":"

WT1-Associated Syndromes \u2013\u00a0Definition<\/h2><\/div>
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Three phenotypes are involved: WAGR syndrome (WAGR, OMIM#194072), Denys-Drash syndrome (DDS, OMIM #194080), and Frasier syndrome (FS, OMIM #136680). These syndromes occur in people with different genetic defects of the WT1<\/em> gene and are associated with an increased risk of Wilms tumors and other abnormalities.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

–<\/p>\n<\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

WT1<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

WT1<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

WT1 encodes for a zinc finger protein with multiple isoforms. The gene product is a transcription factor that regulates cell growth and the differentiation of the kidneys, gonads, spleen, and mesothelium.<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence: <\/p>\n<\/div><\/div><\/div>

Rare<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

The pathogenic variant type determines whether WAGR, DDS, or FS is present. The greatest risk of nephroblastoma is linked to truncating mutations in the exon 8\/9 hotspot. Patients with truncating mutations have a higher risk of bilateral nephroblastomas than patients with missense mutations.<\/p>\n