کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3166539 1199117 2016 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی دندانپزشکی، جراحی دهان و پزشکی
پیش نمایش صفحه اول مقاله
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Volume 121, Issue 5, May 2016, Pages e123–e128
نویسندگان
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