Settara C. Chandrasekharappa

Abstract Fanconi anemia (FA) is a genetic disease characterized by congenital abnormalities and increased risk for bone marrow failure and cancer. FA is caused by mutation of 23 genes, the protein products of which function in the maintenance of genome stability. An important role for the FA proteins in the repair of DNA interstrand crosslinks (ICLs) has been established.

1. Introduction Spondylocostal dysostosis (SCD) is a group of rare orthopedic disorders defined by multiple vertebral segmentation defects and rib deformities. Six genes are known to cause this disease, namely, DLL3 (1), MESP2 (2), LFNG (3), HES7 (4), TBX6 (5), and RIPPLY2 (6). Recently, two other genes DMRT2 and SLC35A3 (7) have been associated with SCD-like form (8). Affected individuals have a short trunk and a short neck with limited mobility.

Abstract Fanconi anaemia (FA), a model syndrome of genome instability, is caused by a deficiency in DNA interstrand crosslink repair resulting in chromosome breakage1,2,3. The FA repair pathway protects against endogenous and exogenous carcinogenic aldehydes4,5,6,7. Individuals with FA are hundreds to thousands fold more likely to develop head and neck (HNSCC), oesophageal and anogenital squamous cell carcinomas8 (SCCs).