Incomplete/partial list of diseases in humans caused by genomic disorders:

Genomic disorders were coined by Jim Lupski. Diseases caused by rearrangement of segments of DNA.

  • Charcot-Marie-Tooth disease type 1A, Autosomal dominant.
    • Duplication at 17p locus, PMP22 gene
  • Hereditary neuropathy with liability to pressure palsies, HNPP Autosomal dominant. This is a disorder of the peripheral nervous system. - Mechanism?
    • Deletion of PMP22 gene
      • Are there LOF mutations for this gene?
  • Digeorge syndrome
    • Hemizygous deletion in chromosome 22p

  • MECP2 duplications

  • NF1 deletions

  • 16p11 deletions in autism

  • Pelizaeus-Merzbacher disease caused by genomic duplications

  • Spinal muscular atrophy (MIM 25330), associated with genomic deletion,

Incomplete/partial list of diseases in humans caused by enhancer/gene regulatory region mutations:

  • SHH (preaxial polydactyly)
  • SOX9 (Pierre Robin Syndrome, a form of cleft palate)
    • Pathogenic disrupts binding - loss of function?
  • TBX5 (congenital heart disease)
  • PTF1A (Pancreas agenesis)
    • disease mutations isolated in pedigree/cases causes disruption of enhancer-promoter interations