Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome

Eur J Hum Genet. 2000 Apr;8(4):311-4. doi: 10.1038/sj.ejhg.5200448.


Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Cells, Cultured
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics*
  • Family Health
  • Homeodomain Proteins / genetics*
  • Humans
  • LIM-Homeodomain Proteins
  • Molecular Sequence Data
  • Nail-Patella Syndrome / genetics*
  • RNA / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion
  • Transcription Factors


  • Homeodomain Proteins
  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • Transcription Factors
  • RNA
  • DNA