Fig. 2.

Identification of compound heterozygous variants in the NIN gene. A, Rare nonsynonymous variants in candidate genes found in both subjects from screening of whole-exome sequencing. CLEC4F, C-type lectin domain family 4 member F; AFF1, AF4/FMR2 family member 1; FAM55D, family with sequence similarity 55 member D; NIN, ninein; ZFYVE26, zinc finger FYVE domain containing 26 (also known as spastizin); MKNK1, MAPK interacting serine-threonine kinase 1; N/A, variant is either not present in dbSNP or in the 1000 Genomes data set. B, Electropherogram of rare and novel NIN variants in probands and parents.