Figure 1.

Identification of Bi-allelic Mutations in TTC29

(A) Pedigrees of three families carrying TTC29 truncating mutations. All three affected individuals have bi-allelic mutations with a recessive inheritance mode. The probands from both consanguineous families A002 and A038 have homozygous truncating mutations in TTC29. The proband from family S003 carries compound heterozygous variants of TTC29 derived from his parental, heterozygous carriers. Sanger sequencing results are shown below the pedigrees. The position of each variant is indicated by a red arrow or box.

(B) Schematic representation of the functional domains of TTC29 and locations of TTC29 mutations identified in this study. The purple boxes indicate tetratricopeptide repeat domains as described by the Uniprot server. TTC29 mutations are annotated in accordance to recommendations of the Human Genome Variation Society. Abbreviations: M1, mutation 1; M2, mutation 2; M3, mutation 3; WT, wild type.