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Article

A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

Molecular genetics & genomic medicine - 1 Aug 2021

Zhao Na, Wu Huizhi, Li Ping, Wang Yuxian, Dong Li, Xiao Han, Wu Changxin

Abstract excerpt

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK11 (LKB1). METHODS: STK11 gene variations were identified by analyzing STK11 cDNA and genomic DNA. Minigenes carrying...

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Identifiers

PMID: 34080793
DOI: 10.1002/mgg3.1729
PMCID: PMC8404226

Genes

STK11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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