Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11

Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11

Abstract Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in STK11 (LKB1), which encodes serine/threonine kinase 11, have been identified as the major cause...

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Main Authors: Aki Ishikawa, Masahiro Gotoh, Mineko Ushiama, Hiromi Sakamoto, Noriko Tanabe, Tomoko Watanabe, Hourin Cho, Masayoshi Yamada, Kokichi Sugano, Kouya Shiraishi, Makoto Hirata, Teruhiko Yoshida, Akihiro Sakurai
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Molecular Cytogenetics
Subjects:
Peutz–jeghers syndrome
STK11
Abnormal splicing
Genetic analysis
Clinical relevance
U12-type intron
Online Access:https://doi.org/10.1186/s13039-025-00710-x
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