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

doi:10.1038/hgv.2016.2

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

Hum Genome Var. 2016 Mar 3:3:16002. doi: 10.1038/hgv.2016.2. eCollection 2016.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
² Department of Obstetrics and Gynecology, Keio University School of Medicine , Tokyo, Japan.
³ Department of Pathology, Yamaguchi University Graduate School of Medicine , Yamaguchi, Japan.
⁴ Center for Medical Genetics, Keio University School of Medicine , Tokyo, Japan.
⁵ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Oncogene Research Unit / Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan.

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.