Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Patrick Kiessling, Eric Dowling, Yajue Huang, Mai Lan Ho, Karthik Balakrishnan, Brenda J. Weigel, W. Edward Highsmith, Zhiyv Niu, Lisa A. Schimmenti

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3 Scopus citations


Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/ Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.

Original languageEnglish (US)
Article numbera003640
JournalCold Spring Harbor Molecular Case Studies
Issue number2
StatePublished - 2019

ASJC Scopus subject areas

  • General Medicine


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