title: 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.
authors.affiliation: Resident, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA, USA.
authors.forename: Hannah A
authors.initials: HA
authors.lastname: Duong
authors.affiliation: Resident, Division of Endocrinology, VA Greater Los Angeles Healthcare System, Los Angeles, CA; and Division of Endocrinology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
authors.forename: Karen T
authors.initials: KT
authors.lastname: Le
authors.affiliation: Resident, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
authors.forename: Albert L
authors.initials: AL
authors.lastname: Soulema
authors.affiliation: Chief of Oral and Maxillofacial Surgery at the Dental Service, Sepulveda Campus, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
authors.forename: Ronald H
authors.initials: RH
authors.lastname: Yueh
authors.affiliation: Chief, Division of Medical Genetics, VA Greater Los Angeles Healthcare System, Los Angeles, CA; and Associate Clinical Professor, Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors.forename: Maren T
authors.initials: MT
authors.lastname: Scheuner
authors.affiliation: Professor, Section of Endocrinology, Diabetes, and Nutrition, Boston University School of Medicine, Boston, MA, USA.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Holick
authors.affiliation: Associate Professor, Section of Oral and Maxillofacial Pathology, UCLA School of Dentistry, Los Angeles, CA, USA.
authors.forename: Russell
authors.initials: R
authors.lastname: Christensen
authors.affiliation: Program Director, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
authors.forename: Tracey L
authors.initials: TL
authors.lastname: Tajima
authors.affiliation: Assistant Clinical Professor, Division of Endocrinology, UCLA David Geffen School of Medicine, Los Angeles, CA; and Division of Endocrinology, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Leung
authors.affiliation: Associate Professor and Residency Program Director, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA, USA. Electronic address: Smallya@ucla.edu.
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Mallya
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree