Here I present: “E-Complementation Fanconi-anemia”, Victor McKusick, “Mendelian Inheritance in Man’, 1966. (FA) 範科尼貧血。icd10=D61.03
INTRODUCTION.
Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C.
Fanconi anemia (FA) is an autosomal recessive genetic disease-characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity.
There is evidence Fanconi anemia complementation group-E is caused by homozygous mutation in the FANCE gene on cytogenetic location 6p21.31 and genomic coordinates 6:35,452,338-35,467,102. The screenshot of the FANCE gene 14,765 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FANCE in the 6p21.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:35,213,956 | SCUBE3 | Signal peptide-, CUB domain-, and EGF protein 3 |
| 6:35,259,533 | ZNF76 | Zinc finger protein-76 |
| 6:35,297,818 | DEF6 | DEF6 guanine nucleotide exchange factor |
| 6:35,342,558 | PPARD | Peroxisome proliferative activated receptor, delta |
| 6:35,452,338 | FANCE | Fanconi anemia, complementation group E gene |
| 6:35,468,401 | RPL10A | Ribosomal protein L10A |
| 6:35,473,597 | TEAD3 | TEA domain family member 3 |
| 6:35,497,874 | TULP1 | TUB-like protein 1 |
| 6:35,573,590 | FKBP5 | FK506-binding protein 5 |
| 6:35,731,524 | ARMC12 | Armadillo repeat-containing protein 12 |
