IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).

Humans Male Biglycan / genetics Induced Pluripotent Stem Cells Osteochondrodysplasias / genetics Mutation, Missense Extracellular Matrix Proteins / genetics

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
03 2023
Historique:
received: 05 08 2022
revised: 08 12 2022
accepted: 05 01 2023
pubmed: 15 1 2023
medline: 3 3 2023
entrez: 14 1 2023
Statut: ppublish

Résumé

Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD, biglycan type), which is clinically characterized by short stature, brachydactyly and osteoarthritis. Little is known about the pathomechanisms underlying SEMD, biglycan type. IPSC-derived chondrocyte disease models have been shown to exhibit several key aspects of known disease mechanisms of skeletal dysplasias and are therefore considered highly suitable human disease models to study SEMD, biglycan type. Prior to creating iPSC-chondrocytes, dermal fibroblasts of two male patients with SEMD, biglycan type, carrying the p.Gly259Val variant were successfully reprogrammed into iPSCs using the CytoTune

Identifiants

DOI: 10.1016/j.scr.2023.103024 PMID: 36640472 PMC: PMC9972783
pubmed: 36640472
pii: S1873-5061(23)00010-7
doi: 10.1016/j.scr.2023.103024
pmc: PMC9972783
pii:
doi:

Substances chimiques

Biglycan 0
Extracellular Matrix Proteins 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

103024

Informations de copyright

Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Références

BMC Bioinformatics. 2011 Jan 05;12:4
pubmed: 21208430
Am J Hum Genet. 2016 Jun 2;98(6):1243-1248
pubmed: 27236923
Genet Med. 2017 Apr;19(4):386-395
pubmed: 27632686
Am J Med Genet A. 2019 Dec;179(12):2393-2419
pubmed: 31633310

Auteurs

Pauline De Kinderen (P)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.

Silke Peeters (S)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.

Laura Rabaut (L)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.

Geert Mortier (G)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium; Center of Human Genetics, KU Leuven and Leuven University Hospital, Leuven, Belgium.

Peter Ponsaerts (P)

Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute (Vaxinfectio), University of Antwerp, Antwerp, Belgium.

Bart Loeys (B)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Aline Verstraeten (A)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.

Josephina A N Meester (JAN)

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp Belgium.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › IPSC reprogramming of two patients with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Petits protéoglycanes riches en leucine › Biglycane › IPSC reprogramming of two patients with...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › IPSC reprogramming of two patients with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Ostéochondrodysplasies › IPSC reprogramming of two patients with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › IPSC reprogramming of two patients with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › IPSC reprogramming of two patients with...