Fig. 1

Schematic view of the localisation and type of mutations in the study cohort. Boxes represent exons (coding region in grey), lines represent introns. Mutations are labelled according to HGVS recommendations (http://www.hgvs.org/mutnomen/). Deletions, duplications and splice variants are described using the MAN2B1 coding DNA reference sequence NM_000528.3, where position +1 corresponds to A in the first ATG translation initiation codon. Novel mutations are in bold. Variants of uncertain clinical significance are in italics. *Variant c.1230+5G>A was detected in two siblings where it was in cis with c.2248C>T p.Arg750Trp; variants c.1501T>A p.Cys501Ser and c.2849G>C p.Arg950Pro were in cis in one patient