@article{5c7266970a9a44dea1187f64cd0f0e19,
title = "Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup",
abstract = "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.",
author = "Patrick Kiessling and Eric Dowling and Yajue Huang and Ho, {Mai Lan} and Karthik Balakrishnan and Weigel, {Brenda J.} and {Edward Highsmith}, W. and Zhiyv Niu and Schimmenti, {Lisa A.}",
note = "Funding Information: Interestingly, dysfunction of the Wnt-β catenin pathway and abnormalities of cilia development have been hypothesized to be the underlying mechanisms of pathogenic extra-intestinal manifestations in FAP patients (G{\'o}mez and Knoers 2009; Nelson and N{\"a}thke 2013). This connection is supported by the presence of symptoms similar to Gardner syndrome in cilia-related disorders, and by the fact that APC is critical for the degradation of β-catenin in the Wnt-signaling pathway. Therefore, this pathway-specific function of APC may create a new context for therapeutic options for patients with Gardner syndrome. Publisher Copyright: {\textcopyright} 2019 Kiessling et al. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.",
year = "2019",
doi = "10.1101/mcs.a003640",
language = "English (US)",
volume = "5",
journal = "Cold Spring Harbor molecular case studies",
issn = "2373-2873",
publisher = "Cold Spring Harbor Laboratory Press",
number = "2",
}