Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
Identifieur interne : 000800 ( Main/Curation ); précédent : 000799; suivant : 000801Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
Auteurs : Hannah A. Duong [États-Unis] ; Karen T. Le [États-Unis] ; Albert L. Soulema [États-Unis] ; Ronald H. Yueh [États-Unis] ; Maren T. Scheuner [États-Unis] ; Michael F. Holick [États-Unis] ; Russell Christensen [États-Unis] ; Tracey L. Tajima [États-Unis] ; Angela M. Leung [États-Unis] ; Sanjay M. Mallya [États-Unis]Source :
- Oral surgery, oral medicine, oral pathology and oral radiology [ 2212-4403 ] ; 2016.
Abstract
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia (FOD) in 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 radiological examination of the patient’s son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356Tyr) in the
Url:
DOI: 10.1016/j.oooo.2016.01.014
PubMed: 27068316
PubMed Central: 4830924
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<front><div type="abstract" xml:lang="en"><p id="P2">Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia (FOD) in 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 radiological examination of the patient’s son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356Tyr) in the <italic>ANO5</italic>
gene, the gene that 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.</p>
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