INTRODUCTIONFanconi anemia (FA) is a DNA repair deficiency syndrome, and is characterized by developmental abnormalities, bone marrow failure, and predisposition to cancer, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) and solid tumors, especially squamous cell carcinoma of the head and neck (Kottemann & Smogorzewska, ; Mamrak, Shimamura, & Howlett, ; Mehta & Tolar, ). Apart from X‐linked FANCB, and dominant negative variants in RAD51/FANCR, FA is an autosomal recessive disease, caused by the inheritance of biallelic mutations in any of the 20 other FA genes: FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3 (Knies et al., ; Mamrak et al., ; Wang & Smogorzewska, ). FA is both genetically and phenotypically a heterogeneous disorder. The underlying problem is inability of FA cells to repair DNA interstrand crosslinks (ICLs).The congenital abnormalities in an FA patient may affect multiple organ systems and include growth (short stature), skin pigmentation, thumb and radial bone, uro‐genital, eye, ear and hearing, gastrointestinal, and central nervous system (CNS) anomalies (Auerbach, ). The phenotypic expression of these abnormalities is highly variable, and is displayed by about two‐thirds of FA patients. However, the malformations are usually severe
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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