title: Identification of two mutations for ataxia telangiectasia among the Druze community.
abstract: Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by progressive cerebellar ataxia, immunodeficiency, susceptibility to lymphoreticular malignancies and cancer predisposition, hypersensitivity to ionic radiation and chromosomal instability. In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). The 1339 C > T mutation, which results in a stop codon at position 447 of the ATM protein, was observed in two unrelated clans originating from Lebanon and Jordan. The 6672 del GG/6677 del TACG mutation was observed in two unrelated clans originating from Syria and Lebanon. In the present study, simple and fast detection assays were developed for both mutations. The ability to identify AT carriers routinely provides a unique opportunity for prenatal diagnosis, genetic counseling as well as marriage guidance in the Druze community.
authors.affiliation: Department of Biochemistry and Molecular Genetics, Carmel Medical Center, Haifa, Israel. fares@clalit.org.il
authors.forename: Fuad
authors.initials: F
authors.lastname: Fares
authors.forename: Sivan
authors.initials: S
authors.lastname: Axelord Ran
authors.forename: Miriam
authors.initials: M
authors.lastname: David
authors.forename: Nathanel
authors.initials: N
authors.lastname: Zelnik
authors.forename: Yehudah
authors.initials: Y
authors.lastname: Hecht
authors.forename: Hasan
authors.initials: H
authors.lastname: Khairaldeen
authors.forename: Aaron
authors.initials: A
authors.lastname: Lerner
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007557:Israel; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D044465:White People / Q000235:genetics*
chemical_list: D017931:DNA Primers