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

被引：20

作者：

Duong, Hannah A. ^{[1
]}

Le, Karen T. ^{[2
,3
]}

Soulema, Albert L. ^{[4
]}

Yueh, Ronald H. ^{[5
]}

Scheuner, Maren T. ^{[6
,7
]}

Holick, Michael F. ^{[8
]}

Christensen, Russell ^{[9
]}

Tajima, Tracey L. ^{[4
]}

Leung, Angela M. ^{[2
,10
]}

Mallya, Sanjay M. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Sch Dent, Sect Oral & Maxillofacial Radiol, Los Angeles, CA 90024 USA

[2] VA Greater Los Angeles Healthcare Syst, Div Endocrinol, Los Angeles, CA USA

[3] Cedars Sinai Med Ctr, Div Endocrinol, Los Angeles, CA 90048 USA

[4] VA Greater Los Angeles Healthcare Syst, Dept Dent, Los Angeles, CA USA

[5] VA Greater Los Angeles Healthcare Syst, Oral & Maxillofacial Surg, Dent Serv, Sepulveda Campus, Los Angeles, CA USA

[6] VA Greater Los Angeles Healthcare Syst, Div Med Genet, Los Angeles, CA USA

[7] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90095 USA

[8] Boston Univ, Sch Med, Sect Endocrinol Diabet & Nutr, Boston, MA 02118 USA

[9] Univ Calif Los Angeles, Sch Dent, Sect Oral & Maxillofacial Pathol, Los Angeles, CA 90024 USA

[10] Univ Calif Los Angeles, David Geffen Sch Med, Div Endocrinol, Los Angeles, CA 90095 USA

来源：

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY | 2016年 / 121卷 / 05期

基金：

美国国家卫生研究院;

关键词：

FIBROOSSEOUS LESIONS; BONE; OSTEONECROSIS; PROTEIN; JAW;

D O I：

10.1016/j.oooo.2016.01.014

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

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.

引用

页码：E123 / E128

页数：6

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