Fig. 1.

( A ) Pedigree of the studied family. Blackened symbols indicate affected individuals. ( B ) Chromatograms from the patient (V.2), one parent (IV.1) and a control showing the homozygous mutation detected in the family; the c.23T > A (p.Leu8*) nonsense mutation in the TRAPPC6B gene (NM_001079537). ( C ) Alignment of TRAPPC6B amino acid sequences of the protein region comprising the mutation under investigation between different species using CLUSTAL 2.1. Leucine 8 of TRAPPC6B (NP_001073005), highlighted in red, is highly conserved across different species.