FIGURE 1.

(a) Pedigree of the affected family with autosomal recessive mode of inheritance, arrowhead indicates the proband. (b) CBS gene cDNA and protein. Transcript showing 15 coding exons. Nucleotide change c.253G>A in coding exon 2 is indicated (noncoding exons are not shown here). The CBS gene codes for a 551 amino acid protein with three domains: heme binding domain, catalytic domain, and two regulatory domains CBS‐I and CBS‐II (UniProtKB‐P35520.1). (c) Sequence chromatograms of homozygous affected, heterozygous carrier, and normal individuals of the family showing segregation of the mutation