Table 1 Clinical features of the affected individuals

Great-grandmother (individual I:2)

Female

Deceased

Both hands were classified as post-axial polydactyly type B

–

Granduncle (individual II:2)

Male

56 years

Both hands were classified as post-axial polydactyly type B

–

Grandfather (individual II:6)

Male

54 years

Both hands were classified as post-axial polydactyly type B

c.[1622C > T];p.[(Thr541Met)]

Father (individual III:2)

Male

34 years

Left hand was classified as post-axial polydactyly type B

c.[1622C > T];p.[(Thr541Met)]

Patient (individual IV:1)

Male

2 years

Right hand was classified as post-axial polydactyly, left hand had cutaneous webbing between the 3rd and 4th fingers, left foot had a well-formed digit on the fibular aspect.

c.[1622C > T];p.[(Thr541Met)]