ArticleJournal of human genetics2017
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.Molecular syndromology · 2026Review
- ER-resident proteins are key players in cartilage and bone homeostasis.Frontiers in cell and developmental biology · 2025Review
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.Nature communications · 2022Article
- An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.BMC pediatrics · 2022Review
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.Frontiers in genetics · 2021Review
- Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.Frontiers in genetics · 2021Review
- Specific functions ofCellular & molecular biology letters · 2020Review
- Complex Multisystem Phenotype With Immunodeficiency Associated WithFrontiers in pediatrics · 2020Article
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.American journal of human genetics · 2019Article
- Screening of known disease genes in congenital scoliosis.Molecular genetics & genomic medicine · 2018Article
- Advances and highlights in primary immunodeficiencies in 2017.The Journal of allergy and clinical immunology · 2018Review
- The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Dysosteosclerosis is also caused by TNFRSF11A mutation.Journal of human genetics · 2018Article
- Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.Advances in immunology · 2018Review
- Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Journal of human genetics · 2017Article
- Epigenetic Regulation of the Biosynthesis & Enzymatic Modification of Heparan Sulfate Proteoglycans: Implications for Tumorigenesis and Cancer Biomarkers.International journal of molecular sciences · 2017Review
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Authors and funding
11 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. The EXTL3 mutation identified in the patients was a homozygous missense mutation (c.953C>T) that caused a substitution in a highly conserved amino acid (p.P318L). The enzyme activity of the mutant EXTL3 protein was significantly decreased compared to the wild-type protein. Both patients had spinal cord compression at the cranio-vertebral junction and multiple liver cysts since early infancy. One of the patients showed severe immunodeficiency, which is considered non-fortuitous association. Our findings would help define a novel type of SEMD caused by EXTL3 mutations.
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