ArticleAmerican journal of human genetics2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 97 citations in OpenAlex.
- Article
- Identification and functional analysis of a novelFrontiers in genetics · 2026Article
- TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.International journal of molecular sciences · 2024Review
- Functional analysis of a novel nonsense variant c.91A>T of theFrontiers in genetics · 2023Article
- Structural basis for assembly of TRAPPII complex and specific activation of GTPase Ypt31/32.Science advances · 2022Article
- A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.BMC medical genetics · 2020Article
- X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.Journal of orthopaedic case reports · 2020Article
- Article
- Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.BMC medical genetics · 2019Article
- Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL).International journal of endocrinology · 2018Article
- Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.The international journal of biochemistry & cell biology · 2014Review
- Article
- The EM structure of the TRAPPIII complex leads to the identification of a requirement for COPII vesicles on the macroautophagy pathway.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia.International journal of biomedical science : IJBS · 2012Article
- X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.Annals of laboratory medicine · 2012Article
- C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.Molecular biology of the cell · 2011Article
- Role of Rab GTPases in membrane traffic and cell physiology.Physiological reviews · 2011Review
- Molecular architecture of the TRAPPII complex and implications for vesicle tethering.Nature structural & molecular biology · 2010Article
- SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.PloS one · 2010Article
- Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.The New England journal of medicine · 2010Article
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Authors and funding
17 authors at 13 institutions in 8 countries.
Funding
Abstract
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-linked SEDL ascertained from different ethnic populations. Twenty-one different disease-associated mutations now have been identified throughout the SEDL gene. These include nonsense mutations in exons 4 and 5, missense mutations in exons 4 and 6, small (2-7 bp) and large (>1 kb) deletions, insertions, and putative splicing errors, with one splicing error due to a complex deletion/insertion mutation. Eight different frameshift mutations lead to a premature termination of translation and account for >43% (13/30) of SEDL cases, with half of these (7/13) being due to dinucleotide deletions. Altogether, deletions account for 57% (17/30) of all known SEDL mutations. Four recurrent mutations (IVS3+5G-->A, 157-158delAT, 191-192delTG, and 271-275delCAAGA) account for 43% (13/30) of confirmed SEDL cases. The results of haplotype analyses and the diverse ethnic origins of patients support recurrent mutations. Two patients with large deletions of SEDL exons were found, one with childhood onset of painful complications, the other relatively free of additional symptoms. However, we could not establish a clear genotype/phenotype correlation and therefore conclude that the complete unaltered SEDL-gene product is essential for normal bone growth. Molecular diagnosis can now be offered for presymptomatic testing of this disorder. Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.
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