Figure 1. Mutation analysis of probands with familial or sporadic GDD.

(A) Family 1 (Caucasian): Five individuals have been recruited (asterisk). Radiograph of mandible of proband after surgery and CT showing prior mandibular overgrowth and patchy sclerotic maxillary alveolus. (B) Family 2 (Han Chinese): Six individuals recruited including the proband (arrow) and his affected son. Orthopantogram showing overgrowth of both jaws with cotton-wool-like pattern in the alveolar regions. Radiograph of diaphyseal cortical thickening of tubular bones. (C) Sporadic patient 1 with enlargement of the maxilla and mandible. CT scan showing a symmetric expansion in anterior-posterior dimension. Histological findings of the jaw lesion exhibiting cementum-rich florid osseous dysplasia with fibrous proliferation of variable cellularity. (D) Electropherograms of mutations identified in Family 1 (c.1067 G > A; p.Cys356Tyr), Family 2 (c.1079 G > A; p.Cys360Tyr), sporadic patient 1 (c.1553 G > A; p.Gly518Glu) and sporadic patient 2 (c.643 A > G (p.Arg215Gly). (E) Schematic of ANO5 protein. Previously reported GDD mutations are located in the first extra cellular domain and the 4^th transmembrane domain. Three novel mutations from this study are indicated in red. (F) Interspecies sequence alignment for ANO5 showing conservation of mutant residues (black arrows) in cattle (Bos taurus, NP_001161878.1), wolf (Canis lupus familiaris, NP_001161885.1), human (Homo sapiens, NP_998764.1) and mouse (Mus musculus, NP_808362.2).