STRs database » HOXD13 locus

Overview of repeats

It has been described by Albrecht et al. (2004) that expansions of seven repeats (an increase from 15 to 22 alanines) in exon 1 of the HOXD13 gene resulted in synpolydactyly (SPD). They found that the expressed protein in cells which had small expansion (22 repeats) was localised in the nucleus. However, at 24 repeats, the protein was in the nucleus in only 50% of cases. At longer expansions (29-36 repeats), the protein was found in the cytoplasm in almost all cases. Therefore, they suggested that expansions of alanine above a threshold of 29 repeats resulted the expressed protein to aggregate and that prevents its entering to nucleus (Albrecht et al. (2004)). In another study on Chinese cohort, an eight-repeat expansion was observed in all affected individuals, which was not present in any of 50 controls (Xin et al. (2012)).

In four unrelated Chinese families, Chen et al. (2023) reported expansions adding seven to nine alanines. One individual with a seven-alanine expansion had preaxial polydactyly of both hands, and cellular experiments showed cytoplasmic retention and inclusion formation with longer polyalanine expansions.

→ View STRipy's population-wide repeat data for HOXD13 locus