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Sökning: WFRF:(Lundberg Jakob) > PLS3 Mutations in X...

  • Costa, AdrianaDepartment of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal (författare)

PLS3 Mutations in X-Linked Osteoporosis : Clinical and Genetic Features in Five New Families

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • Springer,2023
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-110013
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-110013URI
  • https://doi.org/10.1007/s00223-023-01162-4DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-217719URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:154500531URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding Agencies:FCT|FCCN (b-on)The ESPE Research Unit Grant, the Academy of FinlandThe Sigrid Jusélius FoundationThe Swedish Research CouncilKonung Gustaf V:s och Drottning Victorias FrimurarestiftelseThe Stockholm County Council (OM)
  • Childhood-onset osteoporosis is a rare but clinically significant condition. Studies have shown pathogenic variants in more than 20 different genes as causative for childhood-onset primary osteoporosis. The X-chromosomal PLS3, encoding Plastin-3, is one of the more recently identified genes. In this study, we describe five new families from four different European countries with PLS3-related skeletal fragility. The index cases were all hemizygous males presenting with long bone and vertebral body compression fractures. All patients had low lumbar spine bone mineral density (BMD). The age at the first clinical fracture ranged from 1.5 to 13 years old. Three of the identified PLS3 variants were stop-gain variants and two were deletions involving either a part or all exons of the gene. In four families the variant was inherited from the mother. All heterozygous women reported here had normal BMD and no bone fractures. Four patients received bisphosphonate treatment with good results, showing a lumbar spine BMD increment and vertebral body reshaping after 10 months to 2 years of treatment. Our findings expand the genetic spectrum of PLS3-related osteoporosis. Our report also shows that early treatment with bisphosphonates may influence the disease course and reduce the progression of osteoporosis, highlighting the importance of early diagnosis for prompt intervention and appropriate genetic counseling.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Martins, AndreiaDepartment of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal (författare)
  • Machado, CatarinaDepartment of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal (författare)
  • Lundberg, Elena,1961-Umeå universitet,Pediatrik(Swepub:umu)ellu0034 (författare)
  • Nilsson, Ola,1970-Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women’s and Children’s Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; Department of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden(Swepub:oru)oann (författare)
  • Wang, FanDepartment of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Costantini, AliceDepartment of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Tournis, SymeonLaboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, University of Athens, Athens, Greece (författare)
  • Höppner, JakobDepartment of Pediatrics, St. Josef-Hospital Bochum, Ruhr-University Bochum, Bochum, Germany; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, MA, Boston, United States (författare)
  • Grasemann, CorinnaDepartment of Pediatrics, St. Josef-Hospital Bochum, Ruhr-University Bochum, Bochum, Germany (författare)
  • Mäkitie, OutiKarolinska Institutet (författare)
  • Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, PortugalPediatrik (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Calcified Tissue International: Springer114, s. 157-1700171-967X1432-0827

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