Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group
✍ Scribed by Abdullah Mahmood Ali; Michelle Kirby; Michael Jansen; Francis P. Lach; Jennifer Schulte; Thiyam Ramsing Singh; Sat D. Batish; Arleen D. Auerbach; David A. Williams; Amom Ruhikanta Meetei
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 512 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder characterized by aplastic anemia, cancer susceptibility and cellular sensitivity to DNA crosslinking agents. Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. FANCL possesses a PHD/RING-finger domain and is a putative E3 ubiquitin ligase subunit of the core complex. In this study, we report an FA patient with an unusual presentation belonging to the FA-L complementation group. The patient lacks an obvious FA phenotype except for the presence of a café-au-lait spot, mild hypocellularity and a family history of leukemia. The molecular diagnosis and identification of the FA subgroup was achieved by FA complementation assay. We identified bi-allelic novel mutations in the FANCL gene and functionally characterized them. To the best of our knowledge, this is the second reported case belonging to the FA-L complementation group.