Skip to main content
Fig. 1 | BMC Surgery

Fig. 1

From: Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

Fig. 1

Endoscopic findings, pathology, electropherogram and mutant protein structure of the index patient. a. Endoscopic view of the largest polyp within the stomach (Left) and the colon (Right). b. Sanger sequencing forward and backward revealed a heterozygous deletion, c.471_472delCT. c. The structure of STK11 gene. This novel mutation is within exon 4. d. Representative hematoxylin-eosin-stained tissue slices of the ileal polyp specimens confirms hamartomatous. Up, × 40 magnification; low, × 100 magnification. e. Schematics of the secondary structure or functional domains of the STK11 protein. The mutant protein (p.F157Lfs*5) results in a partial loss of kinase domain and a complete loss of the C-terminal domain compared to the wild type. NLS, Nuclear localization signal, NRD or CRD, N- or C-terminal regulatory domain. f. Evolutionary conservation of amino acid residues altered by c.471_472delCT (p.F157Lfs*5) across different species. G. Predicted by Swiss-Model online software, the mutant protein (p. F157Lfs*5) turns into an abnormal shape with loss of main functional domain compared to the wild type

Back to article page

BMC Surgery

ISSN: 1471-2482

Contact us