Clinical Dental Phenotypes Due to SLC24A Mutations
(A–C) Family AI-112 from Pakistan. The heterozygous (carrier) (III.2 in Figure 2) has teeth with a normal appearance (A) that contrasts with the yellow-brown discoloration and increased opacity of the enamel observed in her niece with erupted permanent teeth (B) (IV.5 in Figure 2). The enamel volume is within normal limits in all teeth with normal crown morphology and cusp patterns evident in the teeth illustrated (C) (IV.6), although affected teeth are susceptible to premature enamel loss.
(D) Family AI-131 from Pakistan. The appearances of the affected teeth are similar to those for AI-112 as illustrated in individual IV.4 in Figure 2 with posteruptive changes leading to premature enamel loss.