Fig. 7.

Identification of a leukodystrophy patient with mutations in SLC27a6. (A) MRI scan of an 18-month-old boy presenting with epilepsy. Arrowhead points to one of the expanded lateral ventricles, diagnostic of leukodystrophy; the paired structural defect is evident on the right side as well. (B) Pedigree shows family-member phenotypes: PRRT2-dependent benign familial infantile epilepsy (vertical hatching); leukodystrophy (horizontal hatching). The proband is designated as #1038. (C) Sequence data for SLC27a6 and PRRT2, respectively. Carriers of the SLC27a6 mutant allele have a C>T transition; the resultant nonsense mutation leads to premature termination of the protein. Carriers of the PRRT2 mutant allele have a C duplication at position 649; this frameshift leads to premature termination of the protein.