1. Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
- Author
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Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, and Mallya SM
- Subjects
- Adult, Diagnosis, Differential, Female, Humans, Male, Mutation, Osteogenesis Imperfecta diagnosis, Pedigree, Osteogenesis Imperfecta genetics
- Abstract
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356 Tyr) in the ANO5 gene, which is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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