Fig. 1

Pedigree and Sanger sequencing details. Using Sanger sequencing, the inheritance mode of autosomal recessive was confirmed in this family based on identified homozygote mutation in the proband and heterozygote mutation in his parents and three of his grandparents. Here only sequencing graph from the proband and his parents are given. Het: Heterozygous. Hom: Homozygous