Fanconi anemili olgularda en sik FANCA geninde (~% 60) mutasyon saptanirken, olgularin yalnizca %2' sinde BRIP1 geni mutasyonlari bildirilmektedir (19).
FANCA geninde mutasyon saptanan 3 farkli aileden (4 birey) ikisinde c.894-2A>G mutasyonu, digerinde ise (iki kardes) c.4261-2A>C homozigot mutasyonu saptandi.
FANCA safeguards interphase and mitosis during hematopoiesis in vivo.
Does FANCA assist CENP-E in architectural organization of chromosomes at spindle equator?
Testing is offered for the common founder Ashkenazi Jewish mutation in the FANCC gene, for three founder mutations in the FANCA
gene in the Afrikaner population, and for the seven base-pair deletion mutation in the FANCG gene in black SA patients (F Essop, personal communication, May 2017).
The frequency of somatic anomalies and growth disturbances were recorded, and compared with those of other cohorts with documented FANCA mutations, as well as with the Rosendorff et al.
Given that we now know the molecular basis of FA in Afrikaner patients, we can assume that at least 80% of the patients in the above 2 cohorts would have carried founder FANCA mutations as the cause of their FA.
Here, we report a novel truncating mutation c.3446_3449dupCCCT (p.Met1151ProfsTer65) in exon 35 of the FANCA gene identified in two unrelated FA patients with Romani ethnicity from Macedonia and Kosovo.
Due to a suspicion of FA, the patients were screened for the known Macedonian founder mutation, c.190-256_283+1680del2040dupC (exon 3 deletion) in the FANCA gene, as already described (6).
c No gentle trip in a fanca
yc carriage and a lift in a limo for them.
Researchers at the Fred Hutchinson Cancer Research Center will next determine whether immunotoxin conditioning facilitates engraftment of gene-modified stem cells using FancA
mice and optimize dosing of immunotoxin platform to completely eliminate host hematopoiesis in order to decrease the risk of leukemogenesis.