Fig. 1.

a Pedigree of a Pakistani family segregating SHFM1 in an autosomal dominant pattern. Members affected with SHFM1 are represented by black symbols. White symbols indicate unaffected individuals. Affected members screened for the heterozygous missense variant (c.632T>A) are shown. Deceased individuals are marked with a diagonal line. b-i Clinical features of the proband (III-3). b Right hand showing agenesis of the central ray with lobster claw deformity. c Left hand with aplasia of the thumb and fingers 2–3, and anonychia of the 4th finger. d, e Radiographs of the hands showing aplasia of phalanges and turning of phalanges towards the palms at metatarsophalangeal joints. f Right hand with nail clubbing. g Dental crowding. h, i Short radio-ulna. j, k Sequencing results of exon 3 in DLX6 (5′-3′). A heterozygous mutation (c.632T>A) in the proband is indicated by an arrow (j). Sequencing results of exon 3 in normal family members. The arrow indicates site of mutation (k). w/t, wild type.