Fig 1.

(a) Pedigree of consanguineous five-generation Pakistani family with autosomal recessive pure fingernail dysplasia. (b–f) Clinical features of patients with pure finger-nail dysplasia phenotypes. (b) Severe hyperkeratotic thickening of nail plate, nail bed and swelling of fingers is seen in individual V-1; (c) Keratotic lesions of the index, middle and ring fingers in the right hand and keratotic left fingernails and normal left thumb in individual V-2; (d) Severe onychodystrophy with hyperkeratosis, mild erythema and swelling in Patient V-4; (e) Patient V-5 with thickened dystrophic nail plate and hyperkeratotic nail bed; (f) Patient V-6 has severe destruction of nail plate and nail bed. (g–i) Sanger sequencing analysis of SLC25A16 gene in the study kindred. (g) The homozygous mutant allele in affected individual (V-1, V-2, V-4, V-5, V-6); (h) heterozygous SLC25A16 c.92G>T mutant and wild-type alleles in carriers (III-1, IV-1, V-3); (i) homozygous normal allele in normal individual (V-7). (j) Comparison of partial amino acid sequence of human SLC25A16 across different species. The missense mutation (p.Arg31Leu) affecting conserved arginine residue in human SLC25A16 is indicated by an arrow.