title: Fanconi anemia in Ashkenazi Jews.
abstract: Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi.
authors.affiliation: Department of Otolaryngology, New York University Medical Center, New York, USA.
authors.forename: David I
authors.initials: DI
authors.lastname: Kutler
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D005838:Genotype; D006801:Humans; D015994:Incidence; D007585:Jews / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution