Fig. 2.

Identifying the AI-causing ENAM mutation. (a) Pedigree showing the autosomal dominant pattern of inheritance. A dot indicates individuals who were examined and contributed DNA. (b) DNA sequencing chromatograms showing the single nucleotide deletion (c.107delA; g.2979delA) that shifted the reading frame (black arrowheads) in one ENAM allele. (c) Conceptual translation of the wild-type (WT) and mutant (Mut) alleles. The frameshift (p.Asn36Ilefs56) occurs in codon 36 prior to the signal peptide cleavage site (white arrowhead) and would probably cause the mutant mRNA to be degraded by nonsense mediated decay.