Sequence analysis of HOXD13 gene in a two-generation Chinese family with six individuals.
Gene scan and linkage analysis suggested that HOXD13 might be responsible for the disease of this family. An LOD around 1.8 was observed at three markers (P = 2E?#xA0;3). We identified a novel c.893G>A (p.Arg298Gln) mutation in the HOXD13 homeodomain. And the mutation affected the transcriptional activation ability of HOXD13.
This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development.