Figure 1.

(a) Pedigree of family AI-17 illustrating segregation of the wild-type (+) and variant (−) alleles for the LAMB3 variant with the disease phenotype. The proband is marked with an arrow. Individuals who were whole-exome sequenced are marked with an asterix. (b) Clinical phenotype observed in the proband at 3 years of age. A generalised, irregular hypoplastic AI is observed with small islands of enamel evident on close inspection (arrows). These are absent from where the teeth occlude indicating that the clinical phenotype has probably been modified by post-eruptive changes. The panoramic radiograph of the proband confirms that the enamel is hypoplastic on formation. (c) Electropherogram showing the LAMB3 mutation and wild-type sequence. (d) Location of the LAMB3 change with respect to the Laminin-5 heterotrimer (based on Nakano et al).²⁸