Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene
Identifieur interne : 000800 ( Main/Exploration ); 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
Affiliations:
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Duong</name><affiliation wicri:level="2"><nlm:aff id="A1">Resident, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Resident, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Le, Karen T" sort="Le, Karen T" uniqKey="Le K" first="Karen T." last="Le">Karen T. Le</name><affiliation wicri:level="2"><nlm:aff id="A2">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</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Resident, Division of Endocrinology, VA Greater Los Angeles Healthcare System, Los Angeles, CA; and Division of Endocrinology, Cedars-Sinai Medical Center, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Soulema, Albert L" sort="Soulema, Albert L" uniqKey="Soulema A" first="Albert L." last="Soulema">Albert L. Soulema</name><affiliation wicri:level="2"><nlm:aff id="A3">Resident, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Resident, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Yueh, Ronald H" sort="Yueh, Ronald H" uniqKey="Yueh R" first="Ronald H." last="Yueh">Ronald H. Yueh</name><affiliation wicri:level="2"><nlm:aff id="A4">Chief of Oral and Maxillofacial Surgery at the Dental Service, Sepulveda Campus, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Chief of Oral and Maxillofacial Surgery at the Dental Service, Sepulveda Campus, VA Greater Los Angeles Healthcare System, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Scheuner, Maren T" sort="Scheuner, Maren T" uniqKey="Scheuner M" first="Maren T." last="Scheuner">Maren T. Scheuner</name><affiliation wicri:level="2"><nlm:aff id="A5">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</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Holick, Michael F" sort="Holick, Michael F" uniqKey="Holick M" first="Michael F." last="Holick">Michael F. Holick</name><affiliation wicri:level="2"><nlm:aff id="A6">Professor, Section of Endocrinology, Diabetes, and Nutrition, Boston University School of Medicine, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Professor, Section of Endocrinology, Diabetes, and Nutrition, Boston University School of Medicine, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Christensen, Russell" sort="Christensen, Russell" uniqKey="Christensen R" first="Russell" last="Christensen">Russell Christensen</name><affiliation wicri:level="2"><nlm:aff id="A7">Associate Professor, Section of Oral and Maxillofacial Pathology, UCLA School of Dentistry, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Associate Professor, Section of Oral and Maxillofacial Pathology, UCLA School of Dentistry, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Tajima, Tracey L" sort="Tajima, Tracey L" uniqKey="Tajima T" first="Tracey L." last="Tajima">Tracey L. Tajima</name><affiliation wicri:level="2"><nlm:aff id="A8">Program Director, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program Director, Department of Dentistry, VA Greater Los Angeles Healthcare System, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Leung, Angela M" sort="Leung, Angela M" uniqKey="Leung A" first="Angela M." last="Leung">Angela M. Leung</name><affiliation wicri:level="2"><nlm:aff id="A9">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</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mallya, Sanjay M" sort="Mallya, Sanjay M" uniqKey="Mallya S" first="Sanjay M." last="Mallya">Sanjay M. Mallya</name><affiliation wicri:level="2"><nlm:aff id="A10">Associate Professor and Residency Program Director, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Associate Professor and Residency Program Director, Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><series><title level="j">Oral surgery, oral medicine, oral pathology and oral radiology</title><idno type="ISSN">2212-4403</idno><idno type="eISSN">2212-4411</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Massachusetts</li></region></list><tree><country name="États-Unis"><region name="Californie"><name sortKey="Duong, Hannah A" sort="Duong, Hannah A" uniqKey="Duong H" first="Hannah A." last="Duong">Hannah A. Duong</name></region><name sortKey="Christensen, Russell" sort="Christensen, Russell" uniqKey="Christensen R" first="Russell" last="Christensen">Russell Christensen</name><name sortKey="Holick, Michael F" sort="Holick, Michael F" uniqKey="Holick M" first="Michael F." last="Holick">Michael F. Holick</name><name sortKey="Le, Karen T" sort="Le, Karen T" uniqKey="Le K" first="Karen T." last="Le">Karen T. Le</name><name sortKey="Leung, Angela M" sort="Leung, Angela M" uniqKey="Leung A" first="Angela M." last="Leung">Angela M. Leung</name><name sortKey="Mallya, Sanjay M" sort="Mallya, Sanjay M" uniqKey="Mallya S" first="Sanjay M." last="Mallya">Sanjay M. Mallya</name><name sortKey="Scheuner, Maren T" sort="Scheuner, Maren T" uniqKey="Scheuner M" first="Maren T." last="Scheuner">Maren T. Scheuner</name><name sortKey="Soulema, Albert L" sort="Soulema, Albert L" uniqKey="Soulema A" first="Albert L." last="Soulema">Albert L. Soulema</name><name sortKey="Tajima, Tracey L" sort="Tajima, Tracey L" uniqKey="Tajima T" first="Tracey L." last="Tajima">Tracey L. Tajima</name><name sortKey="Yueh, Ronald H" sort="Yueh, Ronald H" uniqKey="Yueh R" first="Ronald H." last="Yueh">Ronald H. Yueh</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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