SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Lundberg Jakob)
 

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

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

Costa, Adriana (författare)
Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal
Martins, Andreia (författare)
Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal
Machado, Catarina (författare)
Department of Pediatrics, Hospital Prof. Doutor Fernando Fonseca EPE, Amadora, Portugal
visa fler...
Lundberg, Elena, 1961- (författare)
Umeå universitet,Pediatrik
Nilsson, Ola, 1970- (författare)
Karolinska Institutet,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
Wang, Fan (författare)
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Costantini, Alice (författare)
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Tournis, Symeon (författare)
Laboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, University of Athens, Athens, Greece
Höppner, Jakob (författare)
Department of Pediatrics, St. Josef-Hospital Bochum, Ruhr-University Bochum, Bochum, Germany; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, MA, Boston, United States
Grasemann, Corinna (författare)
Department of Pediatrics, St. Josef-Hospital Bochum, Ruhr-University Bochum, Bochum, Germany
Mäkitie, Outi (författare)
Karolinska Institutet
visa färre...
Department of Pediatrics, Hospital Prof Doutor Fernando Fonseca EPE, Amadora, Portugal Pediatrik (creator_code:org_t)
Springer, 2023
2023
Engelska.
Ingår i: Calcified Tissue International. - : Springer. - 0171-967X .- 1432-0827. ; 114, s. 157-170
Relaterad länk:
https://doi.org/10.1...
visa fler...
https://umu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
http://kipublication...
visa färre...
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Ortopedi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Orthopaedics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Early-onset osteoporosis
Fragility fractures
Osteoporosis in children
PLS3

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy