Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

Dear Editor, Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. The gene involved in PJS is mapped to chromosome 19p13.3 and encodes a serine-threonine protein kinase (STK11) known as LKB1 [1, 2]. Here, we report...

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Bibliographic Details
Published in:Annals of laboratory medicine 2017, 37(5), , pp.462-464
Main Authors: Jang, Myeong Sun, Lee, Yoo Min, Ko, Bong Min, Kang, Goeun, Kim, Jong Won, Hong, Yong Hee
Format: Article
Language:English
Subjects:
Adolescent
Colonic Polyps - pathology
Colonoscopy
DNA - chemistry
DNA - isolation & purification
DNA - metabolism
Heterozygote
Humans
Letter to the Editor
Male
Multiplex Polymerase Chain Reaction
Peutz-Jeghers Syndrome - diagnosis
Peutz-Jeghers Syndrome - genetics
Protein-Serine-Threonine Kinases - genetics
Sequence Deletion
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Summary:Dear Editor, Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. The gene involved in PJS is mapped to chromosome 19p13.3 and encodes a serine-threonine protein kinase (STK11) known as LKB1 [1, 2]. Here, we report a PJS patient with unique phenotypic features who had heterozygous deletions spanning exons 1–10 of STK11 gene. KCI Citation Count: 0
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2017.37.5.462