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

Kenta Masuda, Yusuke Kobayashi, Tokuhiro Kimura, Kiyoko Umene, Kumiko Misu, Hiroyuki Nomura, Akira Hirasawa, Kouji Banno, Kenjiro Kosaki, Daisuke Aoki, Kokichi Sugano

研究成果: Article

1 引用 (Scopus)


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.

ジャーナルHuman Genome Variation
出版物ステータスPublished - 2016 3 3


ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics