Fig. 2

Confirmation of new mutation in family I. a Using Sanger sequencing, the inheritance mode of autosomal recessive was confirmed in this family on the basis of identified heterozygote mutation in parents and homozygote in the proband. b PANK2 transcript leading to Nonsense mediated decay. c Multiple sequence alignment of all human encoding isoforms of PANK2 using Clustal W which shows the same conserved residues in these isoforms. d Comparative amino acids alignment of PANK2 protein across all Kingdoms