Fig. 1

Clinical and molecular description. a Pedigree of the patient (II-3), including WES results for variants found in IFT140 (NM_014714.3). b Schematic view of the IFT140 gene (NM_014714.3). IFT140 consists of 31 exons and variants, c.992_993dup and c.2767T > G, detected in patient II-3 were found in exon 9 and exon 21, respectively. The published IFT140 variants known to cause a syndromic disease are annotated in grey. c Schematic view of IFT140 protein structure (NP_055529). IFT140 consists of 1462 amino acids and has five WD repeats and nine tetratricopeptide repeats (TPR). The published IFT140 variants known to cause a syndromic disease are annotated in grey. The two novel IFT140 variants are positioned in the fifth WD repeat, p.Tyr332Valfs*18, and in the third TRP repeat, p.Tyr923Asp (black)