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Selected genetic disorders affecting chromatin structure in cis
| Disorder | Gene | Comments |
|---|---|---|
| γδβ- and δβ-thalassemia | Deletion of LCR causes decreased globin expression | |
| Fragile-X syndrome | Expansion of CCG repeat leads to abnormal methylation and silencing of FMR1 | Premutation alleles (60–200) cause a neurodegenerative disorder |
| FSH dystrophy | Contraction of D4Z4 repeats causes less repressive chromatin | |
| Multiple cancers | Germline epimutation of MLH1 |
FSH, facioscapulohumeral.
