ClinVar

Kan et al. (2003) screened for mutations of the HOXD13 gene in patients with a variety of limb malformations. In a 3-generation family without the typical synpolydactyly phenotype in the hands, but with bilateral partial duplication of the second metatarsals within the first web space of the feet (SPD1; 186000), they identified a heterozygous deletion of an adenine at position -2 in the acceptor splice site of exon 2, which they referred to as 758-2delA. Kan et al. (2003) noted that the foot abnormality in this family was similar to that described in 2 families by Goodman et al. (1998) in which different deletions of HOXD13 were found (142989.0002; 142989.0003), and suggested that the distinctive foot phenotype occurs as a result of haploinsufficiency of HOXD13.