Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome.
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 STK11 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.
Tseng
Chih-Jen
CJ
Department of Obstetrics/Gynecology, Chang Gung Memorial Hospital, Chia-I, Taiwan.
Chen
Shi-Feng
SF
Liou
Shu-I
SI
Lu
Shu-Chuan
SC
Chen
Jie-Ming
JM
Sun
Chien-Feng
CF
Chang
Shuenn-Dye
SD
Cheng
Po-Jen
PJ
Liou
Jui-Der
JD
Chu
Da-Chang
DC
D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D004200:Diseases in Twins / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D019656:Loss of Heterozygosity; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014430:Twins, Monozygotic / Q000235:genetics
D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases