Figure 2

Schematic presentation of the HOXD13 gene structure and overview of all annotated HOXD13 mutations identified in patients affected by various limb malformations. Arrows indicate approximate positions of HOXD13 mutations. Numbers below or above each arrow refer to specific mutations and correspond to the numbers provided in the table below. Different designations have been used to discriminate between types of mutations: arrows above the exons indicate mutations causing BDE, BD-syndactyly, and syndactyly type V (white, grey, and black arrows respectively); arrows below the exons show mutations resulting in SPD or unspecified limb phenotype (black and grey arrows respectively). Mutation p.R274X identified in our proband (number 18) has been bolded and highlighted with large arrow.