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- Title
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.
- Authors
Katz, Lior Haim; Gingold-Belfer, Rachel; Vainer, Elez; Hegger, Shani; Laish, Ido; Derazne, Estela; Weintraub, Ilana; Reznick-Levi, Gili; Goldberg, Yael; Levi, Zohar; Cohen, Shlomi; Half, Elizabeth E.
- Abstract
Juvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities. Methods: Patients' data were extracted retrospectively from 5 centers. Results: Thirty five kindreds (49 patients) were included. Thirty one (89%) Jewish [10 (32%) Ashkenazi; 9 (29%) Sephardi; 11 (35%) non-Russia former Soviet-Union countries (NRFSU), one (3%) unknown]. 40/49 individuals from 27 families underwent genetic testing. Among them 34, from 21 families (85, 78%, respectively) had a pathogenic mutation: BMPR1A n = 15 (71%), SMAD4 n = 6 families (29%). While no SMAD4 mutation was described among Jewish families from NRFSU, 7 NRFSU families carried a founder mutation comprising a large genomic deletion of BMPR1A. GI involvement was reported in 42 patients (86%): colonic polyps (n = 40, 95%, > 50 polyps n = 14, 35%) and 12 underwent colonic resection. Fourteen patients (34%) had gastric or small bowel involvement (n = 5) and 4\14 underwent gastrectomy due to polyp burden. Families from NRFSU had more gastric involvement (66.7% vs. 22.2%- Sephardic and 20%- Ashkenazi Jews; p = 0.038), with more gastric polyps (p = 0.017). Conclusions: We demonstrated a high rate of mutation detection in the heterogeneous population of Israel. Patients from NRFSU with BMPR1A mutation had high rate of gastric involvement.
- Subjects
SOVIET Union; ISRAEL; RUSSIA; JEWISH families; ASHKENAZIM; COLECTOMY; PHENOTYPES; GENETIC testing
- Publication
Hereditary Cancer in Clinical Practice, 2022, Vol 20, Issue 1, p1
- ISSN
1731-2302
- Publication type
Article
- DOI
10.1186/s13053-021-00207-9