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Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.


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.

SUBMITTER: Duong HA 

PROVIDER: S-EPMC4830924 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

Duong Hannah A HA   Le Karen T KT   Soulema Albert L AL   Yueh Ronald H RH   Scheuner Maren T MT   Holick Michael F MF   Christensen Russell R   Tajima Tracey L TL   Leung Angela M AM   Mallya Sanjay M SM  

Oral surgery, oral medicine, oral pathology and oral radiology 20160128 5


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 mut  ...[more]

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