Figure 1.

Clinical phenotype and identification of the mutation. (A) Pedigree of the family showing relationship between affected and unaffected members. Clinical features of family members with NGF c.[680C>A]+[681_682delGG] mutation (CAdGG), showing damage to digits caused by biting (B), traumatic loss of tip of tongue and loss of teeth due to gingivitis(C), and a painless dislocation of the elbow joint (D). (E) Chromatograms comparing the wild-type carrier sequence (top) with that from an affected child (middle), and an alignment of the two sequences showing the altered base and two base pair deletion (bottom). (F) Alignment of part of the mature protein sequence showing the predicted altered amino acid sequence for the protein produced in the previously reported family (R221W) and in our family (V232fs) compared to wild-type NGF.