Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

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dc.contributor.authorCim, Abdullah
dc.contributor.authorCoskun, Salih
dc.contributor.authorGorukmez, Orhan
dc.contributor.authorYuksel, Hatice
dc.contributor.authorUluca, Unal
dc.contributor.authorDi Pietro, Erminia
dc.contributor.authorPlourde, Francois
dc.date.accessioned2024-04-24T17:24:25Z
dc.date.available2024-04-24T17:24:25Z
dc.date.issued2015
dc.departmentDicle Üniversitesien_US
dc.description.abstractPeroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.en_US
dc.identifier.doi10.4274/jcrpe.1835
dc.identifier.endpage72en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid25800479
dc.identifier.startpage69en_US
dc.identifier.trdizinid199084
dc.identifier.urihttps://doi.org/10.4274/jcrpe.1835
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/199084
dc.identifier.urihttps://hdl.handle.net/11468/19661
dc.identifier.volume7en_US
dc.identifier.wosWOS:000351307200011
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPex7en_US
dc.subjectNovelen_US
dc.subjectMutationen_US
dc.subjectPeroxisomal Disordersen_US
dc.subjectChondrodysplasia Punctataen_US
dc.subjectRhizomelicen_US
dc.titleRhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Geneen_US
dc.titleRhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
dc.typeArticleen_US

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