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 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.
authors.affiliation: Department of Obstetrics/Gynecology, Chang Gung Memorial Hospital, Chia-I, Taiwan.
authors.forename: Chih-Jen
authors.initials: CJ
authors.lastname: Tseng
authors.forename: Shi-Feng
authors.initials: SF
authors.lastname: Chen
authors.forename: Shu-I
authors.initials: SI
authors.lastname: Liou
authors.forename: Shu-Chuan
authors.initials: SC
authors.lastname: Lu
authors.forename: Jie-Ming
authors.initials: JM
authors.lastname: Chen
authors.forename: Chien-Feng
authors.initials: CF
authors.lastname: Sun
authors.forename: Shuenn-Dye
authors.initials: SD
authors.lastname: Chang
authors.forename: Po-Jen
authors.initials: PJ
authors.lastname: Cheng
authors.forename: Jui-Der
authors.initials: JD
authors.lastname: Liou
authors.forename: Da-Chang
authors.initials: DC
authors.lastname: Chu
mesh_terms: 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
chemical_list: D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases