Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome

Chih Jen Tseng; Shi Feng Chen; Shu I. Liou; Shu Chuan Lu; Jie Ming Chen; Chien Feng Sun; Shuenn Dye Chang; Po Jen Cheng; Jui Der Liou; Da Chang Chu

Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome

Chih Jen Tseng, Shi Feng Chen, Shu I. Liou, Shu Chuan Lu, Jie Ming Chen, Chien Feng Sun, Shuenn Dye Chang, Po Jen Cheng, Jui Der Liou, Da Chang Chu^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

4 Scopus citations

Abstract

Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK 11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.

Original language	English
Pages (from-to)	154-158
Number of pages	5
Journal	Annals of Clinical and Laboratory Science
Volume	34
Issue number	2
State	Published - 03 2004
Externally published	Yes

Keywords

Cervical cancer
Ovarian neoplasm
Peutz-Jeghers syndrome
STK11 gene expression

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

@article{0ecc02c9af224674b86df5db48c700dd,

title = "Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome",

abstract = "Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK 11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.",

keywords = "Cervical cancer, Ovarian neoplasm, Peutz-Jeghers syndrome, STK11 gene expression",

author = "Tseng, {Chih Jen} and Chen, {Shi Feng} and Liou, {Shu I.} and Lu, {Shu Chuan} and Chen, {Jie Ming} and Sun, {Chien Feng} and Chang, {Shuenn Dye} and Cheng, {Po Jen} and Liou, {Jui Der} and Chu, {Da Chang}",

year = "2004",

month = mar,

language = "英语",

volume = "34",

pages = "154--158",

journal = "Annals of Clinical and Laboratory Science",

issn = "0091-7370",

publisher = "Association of Clinical Scientists",

number = "2",

}

TY - JOUR

T1 - Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome

AU - Tseng, Chih Jen

AU - Chen, Shi Feng

AU - Liou, Shu I.

AU - Lu, Shu Chuan

AU - Chen, Jie Ming

AU - Sun, Chien Feng

AU - Chang, Shuenn Dye

AU - Cheng, Po Jen

AU - Liou, Jui Der

AU - Chu, Da Chang

PY - 2004/3

Y1 - 2004/3

N2 - Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK 11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.

AB - Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK 11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.

KW - Cervical cancer

KW - Ovarian neoplasm

KW - Peutz-Jeghers syndrome

KW - STK11 gene expression

UR - http://www.scopus.com/inward/record.url?scp=2542462339&partnerID=8YFLogxK

M3 - 文章

C2 - 15228227

AN - SCOPUS:2542462339

SN - 0091-7370

VL - 34

SP - 154

EP - 158

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

IS - 2

ER -

Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome

Abstract

Keywords

UN SDGs

Other files and links

Fingerprint

Cite this