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https://hdl.handle.net/11499/4146
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tufan, Ahmet Çevik | - |
dc.contributor.author | Satiroglu-Tufan, Naciye Lale | - |
dc.contributor.author | Jackson, G.C. | - |
dc.contributor.author | Semerci, Cavidan Nur | - |
dc.contributor.author | Solak, S. | - |
dc.contributor.author | Yağcı, Baki | - |
dc.date.accessioned | 2019-08-16T11:32:23Z | - |
dc.date.available | 2019-08-16T11:32:23Z | - |
dc.date.issued | 2007 | - |
dc.identifier.issn | 1018-4813 | - |
dc.identifier.uri | https://hdl.handle.net/11499/4146 | - |
dc.identifier.uri | https://doi.org/10.1038/sj.ejhg.5201882 | - |
dc.description.abstract | Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation, and is sometimes extremely difficult, particularly in adult patients. Genetic diagnosis based on DNA sequencing, on the other hand, can be expensive, time-consuming, and intensive because COMP mutations may be scattered throughout the gene. However, there is evidence that decreased plasma COMP concentration may serve as a diagnostic marker in PSACH, particularly in adult patients. Here, we report the serum and/or plasma COMP concentration-based differential diagnosis of a family with affected adult members. The mean serum and/or plasma COMP concentrations of the three affected family members alive (0.69 ± 0.15 and/or 0.81 ± 0.08 µg/ml, respectively) were significantly lower than those of an age-compatible control group of 21 adults (1.52 ± 0.37 and/or 1.37 ± 0.36 µg/ml, respectively; P < 0.0001). Bidirectional fluorescent DNA sequencing-based genetic diagnosis of these patients revealed a heterozygous mutation for the nucleotide change 1532A > G in exon 14 of the COMP gene, resulting in a substitution of amino acid 511 from aspartic acid to glycine in COMP. Thus, serum and/or plasma COMP concentration may be suggested as an additional diagnostic marker to aid clinical and radiographic findings in suspected cases of PSACH. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | European Journal of Human Genetics | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | adenine | en_US |
dc.subject | aspartic acid | en_US |
dc.subject | cartilage oligomeric matrix protein | en_US |
dc.subject | complementary DNA | en_US |
dc.subject | glycine | en_US |
dc.subject | guanine | en_US |
dc.subject | achondroplasia | en_US |
dc.subject | adult | en_US |
dc.subject | aged | en_US |
dc.subject | amino acid substitution | en_US |
dc.subject | article | en_US |
dc.subject | autosomal dominant disorder | en_US |
dc.subject | case report | en_US |
dc.subject | clinical feature | en_US |
dc.subject | controlled study | en_US |
dc.subject | diagnostic value | en_US |
dc.subject | differential diagnosis | en_US |
dc.subject | DNA sequence | en_US |
dc.subject | family study | en_US |
dc.subject | female | en_US |
dc.subject | fluorescence analysis | en_US |
dc.subject | gene mutation | en_US |
dc.subject | heterozygosity | en_US |
dc.subject | human | en_US |
dc.subject | mutational analysis | en_US |
dc.subject | nucleotide sequence | en_US |
dc.subject | priority journal | en_US |
dc.subject | protein blood level | en_US |
dc.subject | Achondroplasia | en_US |
dc.subject | Adult | en_US |
dc.subject | Aged | en_US |
dc.subject | Aged, 80 and over | en_US |
dc.subject | Amino Acid Sequence | en_US |
dc.subject | Amino Acid Substitution | en_US |
dc.subject | Base Sequence | en_US |
dc.subject | Biological Markers | en_US |
dc.subject | Consanguinity | en_US |
dc.subject | Diagnosis, Differential | en_US |
dc.subject | DNA | en_US |
dc.subject | Dwarfism | en_US |
dc.subject | Extracellular Matrix Proteins | en_US |
dc.subject | Female | en_US |
dc.subject | Genes, Dominant | en_US |
dc.subject | Glycoproteins | en_US |
dc.subject | Humans | en_US |
dc.subject | Male | en_US |
dc.subject | Middle Aged | en_US |
dc.subject | Osteochondrodysplasias | en_US |
dc.subject | Pedigree | en_US |
dc.subject | Point Mutation | en_US |
dc.title | Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: Differential diagnosis of a family | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 15 | en_US |
dc.identifier.issue | 10 | en_US |
dc.identifier.startpage | 1023 | - |
dc.identifier.startpage | 1023 | en_US |
dc.identifier.endpage | 1028 | en_US |
dc.authorid | 0000-0001-9399-0960 | - |
dc.authorid | 0000-0002-5920-0475 | - |
dc.identifier.doi | 10.1038/sj.ejhg.5201882 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 17579668 | en_US |
dc.identifier.scopus | 2-s2.0-34848927512 | en_US |
dc.identifier.wos | WOS:000249778400005 | en_US |
dc.identifier.scopusquality | Q1 | - |
dc.owner | Pamukkale University | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | open | - |
item.languageiso639-1 | en | - |
item.openairetype | Article | - |
item.fulltext | With Fulltext | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | 14.03. Basic Medical Sciences | - |
crisitem.author.dept | 14.02. Internal Medicine | - |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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5201882.pdf | 574.49 kB | Adobe PDF | View/Open |
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