Table 1 STK11 gene mutations and Clinical characteristics of patients with Peutz-Jeghers syndrome
From: Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
Family | Patient | Exon | Nucleotide change | Gender | Age at test (yr) | Family history | MP | Polyps | FPA (yr) | Intussus -ception | Intestinal obstruction | Cancer | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Localization | Pathology | ||||||||||||
1 | 101 | 1 | Del(exon1) | M | 24 | No | Yes | colon | hamartomas | 10 | Yes | No | adenoma |
2 | 201 | 5 | c.721G > Ca | F | 16 | No | Yes | NA | NA | NA | NA | NA | NA |
3 | 301 | 2-5 | Del(exon2-5)a | M | 13 | Yes | Yes | Small bowel, colon | hamartomas | 7 | No | Yes | No |
302 | 2-5 | Del(exon2-5)a | M | 38 | Yes | Yes | NA | NA | NA | No | No | No | |
4 | 401 | 6 | c.752G > A | M | 30 | Yes | Yes | Gastric, colon | hamartomas | 22 | No | No | No |
5 | 501 | 4 | c.545 T > C | M | 7 | Yes | Yes | Gastric, colon | hamartomas | 7 | No | No | No |
503 | 4 | c.545 T > C | F | 45 | Yes | Yes | NA | NA | NA | No | No | No | |
6 | 601 | 5 | c.645_726dela | M | 9 | No | Yes | gastric | hamartomas | 8 | Yes | No | No |