In a study on Israeli population, three CMMRD cases involving a bi-allelic pathogenic variant in PMS2 (c.2192T>G), bi-allelic c.1906G<C in MSH2, and compound heterozygous mutation (c.3959_3962delCAAG, c.3984_3987dupGTCA) in MSH6 were reported. Levi et al. reported 11 cases with CMMRD (4 different biallelic PMS2 s and one biallelic MSH6 mutation) from seven different Israeli families, including four Arab, one Iranian-Jewish, and two Ashkenazi Jewish families), and 4 /11 CMMRD cases were from non-consanguine Ashkenazi Jew families with the biallelic founder mutation c.1906G>C in MSH2, or compound heterozygote pathogenic variant (c3984_3987dup, c.3987_3988insGTC) in MSH6 (81). Three children with CMMRD were reported in Jewish Israeli families, 2 of them with the biallelic founder mutation c.1906G<C in MSH2, and one with compound heterozygotes founder mutations c.3959_3962delCAAG andc.3984_3987dupGTCA in MSH6.
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