List of rare genetic disorders
Research regarding single-gene human diseases has also uncovered "modifier" genes that can alter the severity of phenotypes associated with mutations in the primary disease-associated gene. For instance, for many years, cystic fibrosis was considered a single-gene disease associated with mutations in the cystic fibrosis-associated gene, CFTR. However, the initial discovery of the CFTR gene was followed by the identification of several additional genes that contribute to cystic fibrosis; several modifier genes have also been identified that can modulate the phenotypes associated with mutations in CFTR (Guggino & Stanton, 2006). Cystic fibrosis-associated phenotypes due to mutations in the CFTR gene are in turn modulated by mutations in the following genes: gastrointestinal phenotypes (MUC1), pulmonary phenotypes (TNF, TGFB1, and MBL2), bowel obstruction at birth/meconium ileus (CFM1), and microbial infections (NOS1).
In addition, studies of monogenic disease transmission in identical twins have uncovered various nongenetic mechanisms associated with disease. For example, identical twins with the same mutation in the gene associated with Duchenne muscular dystrophy, called DMD, can exhibit strikingly different disease phenotypes due to different patterns of X chromosome inactivation (Abbadi et al., 1994).
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What is the most rare and unique genetic disorder?
Cohen Syndrome leads to severe mental retardation and other physical problems. There are only 100 known cases worldwide.