In our study, it is not the only altered gene involved in DNA repair: RAD51B participates in homologous recombination repair (HRR) of double-strand DNA breaks [34,35]; FANCE is a member of the Fanconi anemia complementation group (FANC) and plays a role in DNA cross-links repair [36]; NBN is an MRE11-RAD50-NBN (MRN) component involved in DNA recombination, telomere maintenance, cell division regulation and double-strand DNA break repair [35,36]; and lastly, KMT2C is a histone methyltransferase that marks sites for transcription and DNA repair [37]. The gene discussed is KMT2C; the disease is anemia (phenotype).