Figure 3.

Mutations Associated with BDE

An ∼907 kb genomic microdeletion on chromosome 12p was detected in family 1 affecting six genes (gray bar, top; ISCN2009: array 12p11.23p11.22(27,341,677-28,249,358)x1). Point mutations within the PTHLH gene observed in families 2–5 are indicated (bottom). Genes are shown as dark gray boxes, with transcriptional orientation indicated by arrow heads. Small arrows point to genomic position of qPCR amplicons. Exon structure of PTHLH gene is according to NM_198966. Location of the start codon (ATG) in exon 2 is indicated. Genomic positions are according to hg18.

Top: 1 mm represents 5 kb. Bottom: exons, 1 mm represents 10 bp; introns, 1 mm represents 100 bp.