Fig. 1

a. Pedigree of the family from this study. The index case (whose DNA was subjected to WES) is indicated with an arrow. b AutoSNPa software showing block of homozygosity (black) of family on chromosome 16 encompassing the ARL6IP1 gene. Yellow regions indicate heterozygous SNPs. c Sequence electropherogram traces showing the mutation c.112C > T in one patient compared with both parents and a normal control. d Gene domains of ARL6IP1 showing mutations reported thus far. e Analysis of the wildtype vs mutant allelic expression for both parents, based on three independent low-cycle RT-PCR reactions cloned into TOPO vector. Asterisks indicate significance levels (*p < 0.05, **p < 0.01, ns = not significant)