Abstract
Background
Autosomal recessive conditions are common in consanguineous populations. Since consanguinity
is common in the Israeli Arab population, we evaluated the rate of MUTYH polyposis (MAP) among polyposis patients in this population and studied Pathogenic
Variants (PVs) spectrum.
Methods
We reviewed health records of all Arab and Druze polyposis patients referred for counseling
during 2013–2020 who fulfilled the Israeli Genetic Society criteria for MUTYH/APC testing, in a tertiary center in Northern Israel and four additional gastro-genetic
clinics in Israel.
Results
The Northern cohort included 37 patients from 30 unrelated families; 8(26.6%) carried
bi-allelic MUTYH PVs. The major variant p.Glu452del was detected in 6/8 Druze and Muslim families
who shared the same haplotype. Other PVs detected in both cohorts included p.Tyr56Ter,
p.His57Arg, c.849+3A>C, p.Ala357fs, and p.Tyr151Cys. Among bi-allelic carriers, 88%
reported consanguinity, and 100% had positive family history for polyposis or colorectal
cancer (CRC). Generally, the age of CRC was 10 years younger than reported in the
general MAP population.
Conclusions
MAP accounted for 27% of polyposis cases in the Arab population of Northern Israel.
PVs spectrum is unique, with high frequency of the founder variant p.Glu452del. Our
results may inform the genetic testing strategy in the Israeli Arab population.
Keywords
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Article info
Publication history
Published online: February 03, 2023
Accepted:
January 9,
2023
Received:
July 16,
2022
Publication stage
In Press Corrected ProofFootnotes
The study was not funded
Identification
Copyright
© 2023 Published by Elsevier Ltd on behalf of Editrice Gastroenterologica Italiana S.r.l.
