Fig. 1

Pedigree and molecular findings of the patient. a Schematic representation of CLCN2 on chromosome 3q27.1 showing a novel homozygous nonsense mutation located in exon 20. b Sequencing chromatograms of this mutation. c Pedigree of the patient. Her father died of brain glioma. d Ribbon diagrams of the predicted CLCN2 structure from wild-type and p.Arg753Ter mutant protein. Some structures (arrows) in the cystathionine beta-synthase (CBS) domain of the mutant protein are missing