PMC3278352_01
A-Brachydactyly type E (BDE) in the proband characterized by shortened Vth fingers, B, C-Clinical picture of BDE (shortened Vth fingers and toes) in the proband's father, D-X-ray of the proband's hands showing shortening of the Vth right metacarpal, bilateral shortening and broadening of the Ist metacarpals, and bilateral shortening of the middle phalanges of Vth fingers (skeletal abnormalities are indicated by the white arrows), E-Feet of the proband showing broad halluces and no clinically evident BDE, F-Pedigree of the presented BDE family (proband is indicated by an arrow), G-Chromatogram picture showing the c.820C > T(p.R274X) HOXD13 mutation. Wild-type HOXD13 protein sequence is presented in blue, whereas truncated protein variant is shown in red. H - Hand malformation typical for synpolydactyly (SPD) spectrum (syndactyly of fingers 3/4 with insertional polydactyly within the syndactylous web), I - Typical SPD foot malformation characterized by syndactyly of 4/5 toes, J - External rotation of 5th toe often seen in SPD patients (SPD in patients shown in pictures H, I, J results from insertions of 7 Ala in the polyalanine tract).
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F1
We investigated a 10 year old female proband and her 28 year old father of Polish origin, both affected by isolated BDE (a family tree is shown in Figure 1F). Skeletal manifestations of the proband (Figure 1A, D &1E) comprised shortening of the Vth right metacarpal without shortening of IVth metacarpal bones, bilateral shortening and broadening of the Ist metacarpals, bilateral shortened, trapezoid middle phalanges of Vth fingers resulting in rather severe clinodactyly, as well as contractures and deviations of the fingers II-IV. The proband's father (Figure 1B &1C) manifested finger contractures, shortening of the Vth fingers and toes most probably due to shortened Vth metacarpals and metatarsal, shortened finger nails of the Vth fingers most likely resulting from hypoplastic distal phalanges, as well as short thumbs. The proband and her father carried a nonsense heterozygous mutation c.820C > T(p.R274X) in the HOXD13 gene (Figure 1G).