Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of ... Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.
Meetei et al. (2003) detected little or no PHF9 protein in a cell line (EURA868) from an individual with Fanconi anemia of unassigned complementation group (subsequently designated FANCL). The phenotype of the cells from EURA868 resembled that of ... Meetei et al. (2003) detected little or no PHF9 protein in a cell line (EURA868) from an individual with Fanconi anemia of unassigned complementation group (subsequently designated FANCL). The phenotype of the cells from EURA868 resembled that of other Fanconi anemia cells, including the absence of monoubiquitinated FANCD2 (613984) and hypersensitivity to mitomycin C. These Fanconi anemia defects were corrected by ectopic expression of PHF9. Ali et al. (2009) reported a male patient with FANCL who had developmental delay, a cafe-au-lait spot, mild hypocellularity, and a family history of leukemia.
In a cell line (EUFA868) from an individual with Fanconi anemia of complementation group FANCL, Meetei et al. (2003) found little or no PHF9 protein. PHF9 cDNA from this cell line lacked exon 11, thus removing the conserved ... In a cell line (EUFA868) from an individual with Fanconi anemia of complementation group FANCL, Meetei et al. (2003) found little or no PHF9 protein. PHF9 cDNA from this cell line lacked exon 11, thus removing the conserved PHD finger and part of the third WD40 repeat. The genomic DNA from this individual showed a homo- or hemizygous insertion of 177 bp into a pyrimidine-rich sequence at the splice junction between intron 10 and exon 11 (608111.0001). In a male patient with FANCL, Ali et al. (2009) identified compound heterozygous mutations in the FANCL gene (608111.0002-608111.0003).