A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patientsReportar como inadecuado

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BMC Medical Genetics

, 12:161

First Online: 14 December 2011Received: 01 November 2011Accepted: 14 December 2011


BackgroundPeutz-Jeghers syndrome PJS is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips, and an increased risk of developing cancer.

MethodsBlood samples were collected from two unrelated Chinese PJS families totaling 20 individuals 9 male and 11 females, including 6 PJS patients. The entire coding region of the STK11 gene was amplified by polymerase chain reaction and analyzed by direct sequencing.

ResultsA novel mutation, c.904C > T, in exon 7 was identified in both families. A C > T substitution changed codon 302 from CAG glutamine to TAG stop, truncating the STK11 protein, thus leading to the partial loss of the kinase domain and complete loss of the α-helix C-terminus. Furthermore, one PJS patient from each family was diagnosed with a visceral cancer, a colon cancer and a liver cancer respectively.

ConclusionWe predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy.

AbbreviationsPJSPeutz-Jeghers syndrome

STK11Serine threonine kinase 11


CRDC-terminal regulatory domain

Cdc37Cell division cycle 37

Hsp90Heat shock protein

PTENphosphatase and tensin homolog deleted on chromosome ten

STRADSTE20-related adaptor

MAPKmitogen-activated protein kinase

AMPKAMP-activated protein kinase.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-12-161 contains supplementary material, which is available to authorized users.

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Autor: Zhiqing Wang - Yulan Chen - Baoping Wu - Haoxuan Zheng - Jiman He - Bo Jiang

Fuente: https://link.springer.com/

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