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Tytuł pozycji:

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Tytuł:
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Autorzy:
Vahidnezhad H; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Drexel University College of Medicine, Philadelphia, PA, USA.
Pajouhanfar S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Baghdadi T; Department of Orthopedic Surgery, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Shadmehri AA; Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Marvdasht, Fars, Iran.
Giunta C; Connective Tissue Unit, Division of Metabolism, Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Kraenzlin M; Medical Faculty of the University of Basel, Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland.
Syx D; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Malfait F; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Has C; Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Lwin SM; St John's Institute of Dermatology, King's College London, Guy's Campus, London.
Karamzadeh R; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
Liu L; Viapath, St Thomas' Hospital, London, UK.
Guy A; Viapath, St Thomas' Hospital, London, UK.
Hamid M; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Zeinali S; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
McGrath JA; St John's Institute of Dermatology, King's College London, Guy's Campus, London.
Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: .
Źródło:
Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2019 Aug; Vol. 81, pp. 91-106. Date of Electronic Publication: 2018 Nov 18.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Publication: Amsterdam : Elsevier
Original Publication: Stuttgart ; New York : Fischer, c1994-
MeSH Terms:
Mutation, Missense*
Collagen Type VII/*deficiency
Epidermolysis Bullosa/*genetics
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase/*genetics
Child, Preschool ; Collagen Type VII/genetics ; Down-Regulation ; Epidermolysis Bullosa/classification ; Homozygote ; Humans ; Male ; Exome Sequencing
Contributed Indexing:
Keywords: Epidermolysis bullosa; Lysyl hydroxylase 3; PLOD3, type VII collagen, collagen glycosylation
Substance Nomenclature:
0 (COL7A1 protein, human)
0 (Collagen Type VII)
EC 1.14.11.- (PLOD3 protein, human)
EC 1.14.11.4 (Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase)
Entry Date(s):
Date Created: 20181122 Date Completed: 20200511 Latest Revision: 20221207
Update Code:
20240105
DOI:
10.1016/j.matbio.2018.11.006
PMID:
30463024
Czasopismo naukowe
Epidermolysis bullosa (EB), the paradigm of heritable skin fragility disorders, is associated with mutations in as many as 20 distinct genes. One of the clinical variants, recessive dystrophic EB (RDEB), demonstrates sub-lamina densa blistering accompanied by alterations in anchoring fibrils due to mutations in COL7A1. In this study, we characterized a patient with widespread connective tissue abnormalities, including skin blistering similar to that in RDEB. Whole exome sequencing, combined with genome-wide homozygosity mapping, identified a homozygous missense mutation in PLOD3 encoding lysyl hydroxylase 3 (LH3). No mutations in COL7A1, the gene previously associated with RDEB, were detected. The level of LH3 was dramatically reduced in the skin and fibroblast cultures from the patient. The blistering in the skin occurred below the lamina densa and was associated with variable density and morphology of anchoring fibrils. The level of type VII collagen expression in the skin was markedly reduced. Analysis of hydroxylysine and its glycosylated derivatives (galactosyl-hydroxylysine and glucosyl-galactosyl-hydroxylysine) revealed marked reduction in glycosylated hydroxylysine. Collectively, these findings indicate that PLOD3 mutations can result in a dystrophic EB-like phenotype in the spectrum of connective tissue disorders and add it to the list of candidate genes associated with skin fragility.
(Copyright © 2018 Elsevier B.V. All rights reserved.)

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