%0 Journal Article
%T Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
%A Hamlington JD
%A Clough MV
%A Dunston JA
%A McIntosh I
%J Eur J Hum Genet
%V 8
%N 4
%D Apr 2000
%M 10854116
%F 5.351
%R 10.1038/sj.ejhg.5200448
%X 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.