{"id":27101,"date":"2024-05-26T12:23:20","date_gmt":"2024-05-26T10:23:20","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27101"},"modified":"2025-08-26T10:53:27","modified_gmt":"2025-08-26T08:53:27","slug":"dicer1-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/dicer1-syndrome\/","title":{"rendered":"DICER1 Syndrome"},"content":{"rendered":"

DICER1 Syndrome \u2013\u00a0Definition<\/h2><\/div>
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DICER1 syndrome (OMIM *606241, #601200) is based on pathogenic germline variants in the DICER1<\/em> gene and is a cancer predisposition syndrome that predisposes to pleuropulmonary blastoma (PPB), ovarian germline tumours, cystic nephroma, thyroid tumours and numerous other benign and malignant neoplasms.<\/p>\n<\/div>

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

DICER1-Pleuropulmonary blastoma familial tumor predisposition syndrome, DICER1-Related Disorders<\/p>\n<\/div><\/div><\/div><\/div>

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

DICER1<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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

Endoribonuclease DICER1<\/p>\n<\/div><\/div><\/div><\/div>

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

Cleavage of precursor double-stranded microRNA into mature microRNA<\/p>\n<\/div><\/div><\/div><\/div>

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

Autosomal dominant, de novo<\/em> mutation 20%<\/p>\n<\/div><\/div><\/div><\/div>

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

For carrying a pathogenic or probably pathogenic alteration about 1:2500-1:10,000 in the total population<\/p>\n<\/div><\/div><\/div><\/div>

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

Mosaic Missense mutations in the RNase IIIb domain of DICER1 cause the GLOW syndrome (G<\/strong>lobal developmental delay, L<\/strong>ung cysts, O<\/strong>vergrowth, and W<\/strong>ilms tumor)<\/p>\n<\/div><\/div><\/div><\/div>

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

Incomplete; while in one family rarely more than one person is diagnosed with PPB, penetrance is higher in other diseases (e.g. nodular thyroid hyperplasia, benign lung cysts).<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>