Lior Haim Katz1,2, Rachel Gingold-Belfer3,4, Shlomi Cohen4,5, Elizabeth E Half6, Elez Vainer7,8, Shani Hegger9, Ido Laish8,10, Estela Derazne11, Ilana Weintraub12, Gili Reznick-Levi13, Yael Goldberg4,14, Zohar Levi8,4. 1. Department of Gastroenterology and Hepatology, Hadassah-Hebrew University Medical Center, Ein Kerem, 91120, Jerusalem, Israel. Liorkatz5346@gmail.com. 2. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. Liorkatz5346@gmail.com. 3. Division of Gastroenterology, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel. 4. Sackler Faculty of Medicine, Tel Aviv University, 6997801, Tel Aviv, Israel. 5. Deparment Pediatric Gastroenterology and Nutrition Unit, The Dana Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel. 6. Department of Gastroenterology, RAMBAM Health Care Campus, Haifa, Israel. 7. Department of Gastroenterology and Hepatology, Hadassah-Hebrew University Medical Center, Ein Kerem, 91120, Jerusalem, Israel. 8. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. 9. Department of Internal Medicine B, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel. 10. Department of Gastroenterology , Sheba Medical Center, Tel-Hashomer, Israel. 11. Statistic Department, The Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 12. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. 13. Genetics Department, RAMBAM Health Care Campus, Haifa, Israel. 14. Genetics Department, Rabin Medical Center, Beilnson Hospital, Petach-Tikva, Israel.
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.
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.
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