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On December 12, 2017 the blog entry discussed some relatively promising news regarding the relatively uncommon group of diseases known collectively as Huntington’s Disease (including the recently defined Huntington’s-like Diseases). A reader e-wrote to ask if there are any other trinucleotide repeats with known consequences. Alas, yes. Below I give gene, location (chromosome and then region) – repeating sequence and associated condition. * = Note that there are four base combinations for alanine  – GCU, GCC, GCA and GCG

  1. FXN – 9q21.11 – GAA – Friedreich ataxia
  2. HTT – 4p16.3 – CAG – Huntington disease (mentioned in December)
  3. AFF2 – Xq28 – CCG –  fragile XE syndrome
  4. ATXN80S – 13q21.33 – TAC/TGC – Spinocerebellar ataxia 8
  5. PABPN1 – 14q11.2 – Alanine (*) – oculopharyngeal muscular dystrophy
  6. ATN1 – 12p13.31 – CAG – Dentatorubral-pallidoluysian atrophy
  7. TRNT1 – 3p26.2 – CCA – sideroblastic anemia
  8. DMPK – 19q13.32 – CTG – Type 1 myotonic dystrophy
  9. GIGYF2 – 2q37.1 – CAG – Parkinson disease 11
  10. AARS – 6q22.1 – Alanine (*) – Charcot-Marie-Tooth disease 2N, Epileptic encephalopathy, early infantile, 29
  11. ATXN1 – 6p22.3 – CAG – Spinocerebellar ataxia type 1 (SCA1)
  12. ATXN2 – 12q24.12 – CAG – Spinocerebellar ataxia type 2 (SCA2), amyotrophic lateral sclerosis (note that there are 22 other genes implicated in various types of ALS)
  13. JPH3 – 16q24.2 – CAG/CTG – Huntington disease-like 2 (HDL2)
  14. PRNP – 20p13 – octapeptide repeat – Huntington disease-like 1 (HDL1); also implicated in prion disease, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI) as well as Wilson Disease
  15. TBP – 6q27 – CAG/CAA –  Huntington disease-like 4 (HDL4) and spinocerebellar ataxia type 17 (SCA17)
  16. FOXP2 – 7q31.1 – multiple also deletions, translocations and disomies –  FOXP2-related speech and language disorder
  17. FMR1 – Xq27.3 – CGG – Fragile X syndrome (3 variants)
  18. GPX1 – 3p21.31 –  GCG – Glutathione peroxidase deficiency
  19. PPP2R2B – 5q32 – CAG – Spinocerebellar ataxia 12 (SCA12)
  20. AR – Xq12 – CAG – androgen insensitivity syndrome, Spinal and bulbar muscular atrophy, androgenetic alopecia, a form of hair loss also known as pattern baldness
  21. CACNA1A – 19p13.13 – CAG – Spinocerebellar ataxia type 6 (SCA6)
  22. ATXN3 – 14q32.12 – CAG – Spinocerebellar ataxia type 3 (SCA3)
  23. KMT2D – 12q13.12 – CAG – Kabuki syndrome, various cancers

Coming tomorrow – tetranucleotide repeats

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