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Article

Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.

Familial cancer - 1 Jan 2019

Butel-Simoes G I, Spigelman A D, Scott R J, Vilain R E

Abstract excerpt

We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not...

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Identifiers

PMID: 29948449
DOI: 10.1007/s10689-018-0093-3

Genes

STK11

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