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 | Zendy

Kenta Masuda | Zendy; Yusuke Kobayashi | Zendy; Takehiro Kimura | Zendy; Kiyoko Umene | Zendy; Kumiko Misu | Zendy; Hiroyuki Nomura | Zendy; Akira Hirasawa | Zendy; Kouji Banno | Zendy; Kenjiro Kosaki | Zendy; Daisuke Aoki | Zendy; Kokichi Sugano | Zendy

Open Access

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

Author(s) -

Kenta Masuda,

Yusuke Kobayashi,

Takehiro Kimura,

Kiyoko Umene,

Kumiko Misu,

Hiroyuki Nomura,

Akira Hirasawa,

Kouji Banno,

Kenjiro Kosaki,

Daisuke Aoki,

Kokichi Sugano

Publication year - 2016

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2016.2

Subject(s) - stk11 , rna splicing , exon , intron , genetics , gene , biology , allele , mutation , rna , kras

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research