Table 2.
Major recurrent mutations in FA.
| Gene | Mutation* | Geographic/ethnic background | Comment | References |
|---|---|---|---|---|
| FANCA | c.3788_3790del (p.Phe1263del) | European, Brazilian | Relatively mild | [14, 15] |
| c.1115_1118delTTGG (p.Val372fs) | European | Relatively mild | [16] | |
| Exon 12–17del Exon 12–31del |
South-African | Relatively common in Afrikaners | [17] | |
| c.295C>T (p.Gln99X) | Spanish Gypsy population | Worldwide highest prevalence of mutant FANCA allele | [18] | |
| FANCC | c.711+4A>T (originally reported as IVS4+4A>T) | Homozygous in 80% of Ashkenazi Jewish FA; relatively common in Japan. | Severe phenotype in Jews, milder in Japanese. | [19–22] |
| c.67delG (originally reported as 322delG) | Homozygous in approx. 50% of Dutch FA patients | Like other exon 1 mutations, relatively mild phenotype. | [19, 23–25] | |
| FANCD2 | c.1948-16T>G | Turkish | Founder mutation | [26] |
| FANCG | c.313G>T (p.Glu105X) | European | 44% of mutated FANCG alleles in Germany. | [27] |
| c.1077-2A>G | Portuguese/Brazilian | Founder mutation | [27, 28] | |
| c.1480+1G>C | French-Canadian | Founder mutation | [28] | |
| c.307+1G>C | Japanese | Founder mutation | [28, 29] | |
| c.1794_1803del (p.Trp599fs) | European | [28] | ||
| c.637_643del (p.Tyr213fs) | Sub-Saharan Africa | 82% of all black FA patients | [30] | |
| FANCJ | c.2392C>T (p.Arg798X) | Found in ca. 50% of FA-J patients of diverse ancestry; ancient mutation or hot spot. | [11, 12] |
Nucleotide numbering based on ATG = +1.
Published sequence variations in FA genes, with their descriptions conforming to the current nomenclature rules, are listed at http://www.rockefeller.edu/fanconi/.