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A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.

Digestive diseases and sciences - 1 Nov 2017

Zhao Zi-Ye, Jiang Yu-Liang, Li Bai-Rong, Yang Fu, Li Jing, Jin Xiao-Wei, Ning Shou-Bin, Sun Shu-Han

Abstract excerpt

BACKGROUND AND AIMS: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease caused by mutations in the tumor suppressor gene, STK11, which is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing both gastrointestinal and extraintestinal malignancies. METHODS AND RESULTS: We treated a PJS patient without a positive family...

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Identifiers

PMID: 28986664
DOI: 10.1007/s10620-017-4741-5

Genes

STK11

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