title: Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene.
abstract: We report a STK11 splicing variant comprising a 131-bp insertion that is derived from intron 1, which has previously been reported to possess potent pathogenicity. The same variant was detected in a Peutz-Jeghers syndrome patient harboring a genomic deletion in the vicinity of exon 1 of the STK11 gene, which indicated that this variant was derived from the wild-type allele. We also found the same variant in other normal subjects. This variant corresponds to the predicted transcript variant of STK11 (XM_011528209), which is derived from the genomic sequence of Chr19 (NT_011295.12). Therefore, we concluded that the splicing variant was not pathogenic.
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenta
authors.initials: K
authors.lastname: Masuda
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Pathology, Yamaguchi University Graduate School of Medicine , Yamaguchi, Japan.
authors.forename: Tokuhiro
authors.initials: T
authors.lastname: Kimura
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Umene
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Kumiko
authors.initials: K
authors.lastname: Misu
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nomura
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hirasawa
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Kouji
authors.initials: K
authors.lastname: Banno
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Aoki
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Oncogene Research Unit / Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan.
authors.forename: Kokichi
authors.initials: K
authors.lastname: Sugano