High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.
Most autosomal recessive diseases are rare in the general population, but in genetically isolated communities specific condition might be frequent, mainly due to founder effect. Recognition of common inherited disorders in defined populations may be effective in improving public health care. Cockayne syndrome (CS) is a rare autosomal recessive disorder common in Christian Arabs due to a p.Tyr322X mutation. Genetic screening of the p.Tyr322X mutation of the ERCC8 gene in this population documented a carrier frequency of 6.79% (95% confidence interval: 3.84-9.74%). The haplotype analysis data, as well as the high carriers frequency of CS, suggested that the Israeli Arab Christian CS mutation (p.Tyr322X) is an ancient founder mutation that may have originated in the Christian Lebanese community. As a result of this pilot study the Christian CS mutation was included in the genetic screening program offered to the Israeli Arab Christian community.
Genetics Institute, Ha'Emek Medical Center, Afula, Israel.
Morad
M
Khayat
Hagar
H
Hardouf
Joel
J
Zlotogora
Stavit Allon
SA
Shalev
D000483:Alleles; D018912:Arabs / Q000235:genetics*; D003057:Cockayne Syndrome / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D044382:Population Groups / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
C095472:ERCC8 protein, human; D005819:Genetic Markers; D014157:Transcription Factors; D045643:DNA Repair Enzymes