A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

@article{Utsch2002ANS,
  title={A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?},
  author={B. Utsch and K. Becker and D. Brock and M. Lentze and F. Bidlingmaier and M. Ludwig},
  journal={Human Genetics},
  year={2002},
  volume={110},
  pages={488-494}
}
Abstract. Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication within a cryptic trinucleotide repeat sequence encoding an 18-residue polyalanine tract in the homeobox gene (HOX) A13. This mutation expands the stretch with six extra… Expand
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Limb malformations and the human HOX genes.
  • F. Goodman
  • Biology, Medicine
  • American journal of medical genetics
  • 2002
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