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Dysosteosclerosis: Clinical and radiological evolution reflecting genetic heterogeneity

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dc.contributor.authorDEMİRCİOĞLU, SERAP
dc.contributor.authorGÜRPINAR TOSUN, BUŞRA
dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorARMAN, AHMET
dc.contributor.authorsDEMİRCİOĞLU S., Mumm S., ALAVANDA C., Kaygusuz B. S., GÜRPINAR TOSUN B., ARMAN A., Huskey M., GÜRAN T., Duan S., BEREKET A., et al.
dc.date.accessioned2023-09-13T11:57:59Z
dc.date.available2023-09-13T11:57:59Z
dc.date.issued2022-08-01
dc.description.abstractDysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this phenotype. We studied four unrelated Turkish patients with DSS to advance understanding of the new nosology. Patient 1 suffered femur fractures beginning at age 1 year. DSS was suspected from marked metaphyseal osteosclerosis in early childhood and subsequently platyspondyly accompanying patchy osteosclerosis of her appendicular skeleton. She harbored in SLC29A3, in 2012 the first gene associated with DSS, a unique homozygous duplication (c.303_320dup, p.102_107dupYFESYL). Patient 2 presented similarly with fractures and metaphyseal osteosclerosis but with no platyspondyly at age 2 months. She was homozygous for a novel nonsense mutation in SLC29A3 (c.1284C>G, p.Tyr428*). Patient 3 had ocular disease at age 2 years, presented for short stature at age 11 years, and did not begin to fracture until age 16 years. Radiographs showed mild platyspondyly and focal metaphyseal and femoral osteosclerosis. She was homozygous for a unique splice site mutation in TNFRSF11A (c.616+3A>G). Patient 4 at age 2 years manifested developmental delay and frequent infections but did not fracture. He had unique metadiaphyseal splaying and osteosclerosis, vertebral end-plate osteosclerosis, and cortical thinning of long bones but no mutation was detected of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, or CSF1R associated with DSS. We find that DSS from defective SLC29A3 presents earliest and with fractures. DSS from compromised TNFRSF11A can lead to optic atrophy as an early finding. Negative mutation analysis in patient 4 suggests further genetic heterogeneity underlying the skeletal phenotype of DSS. (c) 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
dc.identifier.citationDEMİRCİOĞLU S., Mumm S., ALAVANDA C., Kaygusuz B. S., GÜRPINAR TOSUN B., ARMAN A., Huskey M., GÜRAN T., Duan S., BEREKET A., et al., "Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity", JBMR PLUS, cilt.6, sa.8, 2022
dc.identifier.doi10.1002/jbm4.10663
dc.identifier.issn2473-4039
dc.identifier.issue8
dc.identifier.urihttps://asbmr.onlinelibrary.wiley.com/doi/epdf/10.1002/jbm4.10663
dc.identifier.urihttps://hdl.handle.net/11424/293380
dc.identifier.volume6
dc.language.isoeng
dc.relation.ispartofJBMR PLUS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectInternal Diseases
dc.subjectEndocrinology and Metabolic Diseases
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectENDOCRINOLOGY & METABOLISM
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectEndokrin ve Otonom Sistemler
dc.subjectEndokrinoloji, Diyabet ve Metabolizma
dc.subjectEndokrinoloji
dc.subjectYaşam Bilimleri
dc.subjectEndocrine and Autonomic Systems
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectEndocrinology
dc.subjectLife Sciences
dc.subjectBONE TURNOVER
dc.subjectCOLONY STIMULATING FACTOR
dc.subjectMETAPHYSEAL SCLEROSIS
dc.subjectOSTEOCALCIN
dc.subjectOSTEOPETROSIS
dc.subjectOSTEOSCLEROSIS
dc.subjectPYLE DISEASE
dc.subjectSKELETAL DYSPLASIA
dc.subjectTCIRG1
dc.subjectTNFRSF11A
dc.subjectCSF1R
dc.subjectFRACTURES
dc.subjectRANK
dc.subjectRANKL
dc.subjectRECEPTOR ACTIVATOR OF NUCLEAR FACTOR KB
dc.subjectDEVELOPMENTAL DELAY
dc.subjectDUAL-ENERGY X-RAY ABSORPTIOMETRY
dc.subjectHYPERCALCEMIA
dc.subjectLRRK1
dc.subjectMETABOLIC BONE DISEASE
dc.subjectMETAPHYSEAL DYSPLASIA
dc.subjectMUTATIONS
dc.subjectIDENTIFICATION
dc.subjectOSTEOMYELITIS
dc.subjectDISORDERS
dc.subjectDYSPLASIA
dc.subjectNOSOLOGY
dc.subjectSUBUNIT
dc.subjectFORM
dc.titleDysosteosclerosis: Clinical and radiological evolution reflecting genetic heterogeneity
dc.typearticle
dspace.entity.typePublication
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