2021
DOI: 10.1002/mgg3.1756
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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

Abstract: Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 individuals with Syrian Jewish ancestry. Methods High throughput PCR amplicon sequencing was used to genotype 40 disease‐causing variants in 3840 and 5… Show more

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Cited by 6 publications
(2 citation statements)
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“…In COL6A3, two BM patients had the p.Gly2053Val (c.6158G>T) missense mutation, and the c.6210+1G>A splicing mutation was present in one INTM and one UCDM patient. Patient 69, from a nonconsanguineous family of Sephardic Jews, had in homozygosity the nonsense mutation p. Arg468Ter (c.1402C>T) in COL6A2, which has been reported to be present in 1.65% of Syrian Jews [57].…”
Section: Genetic Datamentioning
confidence: 99%
“…In COL6A3, two BM patients had the p.Gly2053Val (c.6158G>T) missense mutation, and the c.6210+1G>A splicing mutation was present in one INTM and one UCDM patient. Patient 69, from a nonconsanguineous family of Sephardic Jews, had in homozygosity the nonsense mutation p. Arg468Ter (c.1402C>T) in COL6A2, which has been reported to be present in 1.65% of Syrian Jews [57].…”
Section: Genetic Datamentioning
confidence: 99%
“…Carrier screening for these disorders is now recommended and allows informed decisions about marriage and reproduction to be taken. A recent report performed carrier screening of forty disease-causing variants in individuals from Syrian and Iranian Jewish ancestry and compared these to Ashkenazi Jewish carrier frequency rates [52]. Over 8% of the study population were carriers for at least one pathogenic variant, supporting the importance of premarital genetic screening in order to reduce the incidence of autosomal recessive disease.…”
Section: Consanguinity and Rare Genetic Diseasesmentioning
confidence: 99%