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dc.contributor.author
Brance, María Lorena
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dc.contributor.author
Brun, Lucas Ricardo Martín
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dc.contributor.author
Cóccaro, Nicolás M.
dc.contributor.author
Aravena, Andrés
dc.contributor.author
Duan, Shenghui
dc.contributor.author
Mumm, Steven
dc.contributor.author
Whyte, Michael P.
dc.date.available
2022-04-05T20:10:15Z
dc.date.issued
2020-12
dc.identifier.citation
Brance, María Lorena; Brun, Lucas Ricardo Martín; Cóccaro, Nicolás M.; Aravena, Andrés; Duan, Shenghui; et al.; High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6); Elsevier Science Inc.; Bone; 141; 12-2020; 1-6
dc.identifier.issn
8756-3282
dc.identifier.uri
http://hdl.handle.net/11336/154454
dc.description.abstract
Wnt/β-catenin signaling is important for skeletal development and health. Eleven heterozygous gain-of-function missense mutations within the first β-propeller of low-density lipoprotein receptor-related protein 5 (LRP5) are known to cause the autosomal dominant disorder called high bone mass (HBM). In 2019, different heterozygous LRP6 missense mutations were identified in two American families with the HBM phenotype but including absent lateral maxillary and mandibular incisors. We report a 19-year-old Argentinian man referred for “osteopetrosis” and nine years of generalized, medium-intensity bone pain and arthralgias of both knees. His jaw and nasal bridge were broad and several teeth were missing. Routine biochemical testing, including of mineral homeostasis, was normal. Urinary deoxypyridinoline and serum CTX were slightly increased. Radiographic skeletal survey showed diffusely increased radiodensity. DXA revealed substantially elevated BMD Z-scores. Digital orthopantomography confirmed agenesis of his maxillary and mandibular lateral incisors and his second left superior premolar. Cranial magnetic resonance imaging showed diffuse thickening of the calvarium and skull base, dilation of the sheath of the optic nerves containing increased fluid and associated with subtle stenosis of the optic canal, and narrow internal auditory canals. Mutation analyses identified a heterozygous indel mutation in exon 4 of LRP6 involving a single nucleotide change and 6-nucleotide deletion (c.678T > Adel679-684, p.His226Gln-del227-228ProPhe) leading to a missense change and 2-amino acid deletion that would compromise the first β-propeller of LRP6. Experience to date indicates LRP6 HBM is indistinguishable from LRP5 HBM without mutation analysis, although in LRP6 HBM absence of adult lateral incisors may prove to be a unique feature.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Science Inc.
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dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
ALBERS-SCHÖNBERG DISEASE
dc.subject
BONE MODELING
dc.subject
CREATINE KINASE
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DXA
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ENDOSTEUM
dc.subject
EXOSTOSIS
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HYPEROSTOSIS
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LACTATE DEHYDROGENASE
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LRP5
dc.subject
LRP6
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MUTATION
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OSTEOPETROSIS
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OSTEOSCLEROSIS
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SCLEROSTIN
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SKELETAL DYSPLASIA
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TORUS PALATINUS
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WNT SIGNALING
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β-CATENIN
dc.subject.classification
Endocrinología y Metabolismo
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6)
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-03-31T16:31:44Z
dc.identifier.eissn
1873-2763
dc.journal.volume
141
dc.journal.pagination
1-6
dc.journal.pais
Estados Unidos
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dc.description.fil
Fil: Brance, María Lorena. Reumatología y Enfermedades Óseas; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina
dc.description.fil
Fil: Brun, Lucas Ricardo Martín. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Médicas; Argentina
dc.description.fil
Fil: Cóccaro, Nicolás M.. Sanatorio Británico; Argentina
dc.description.fil
Fil: Aravena, Andrés. Universidad Nacional de Rosario. Facultad de Ciencias Médicas. Laboratorio de Biología Ósea; Argentina
dc.description.fil
Fil: Duan, Shenghui. Shriners Hospitals for Children; Estados Unidos
dc.description.fil
Fil: Mumm, Steven. Shriners Hospitals for Children; Estados Unidos. Washington University in St. Louis; Estados Unidos
dc.description.fil
Fil: Whyte, Michael P.. Shriners Hospitals for Children; Estados Unidos. Washington University in St. Louis; Estados Unidos
dc.journal.title
Bone
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S8756328220303306
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.bone.2020.115550
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