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dc.contributor.authorArman, Ahmet
dc.contributor.authorBereket, Abdullah
dc.contributor.authorÇoker Gürkan, Ajda
dc.contributor.authorŞimşek Kiper, Pelin Özlem
dc.contributor.authorGüran, Tülay
dc.contributor.authorÖzkan, Behzat
dc.contributor.authorAtay, Zeynep
dc.contributor.authorAkçay, Teoman
dc.contributor.authorHaliloğlu, Belma
dc.contributor.authorBoduroğlu, Koray
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorTuran, Serap
dc.date.accessioned2018-07-24T11:25:05Z
dc.date.available2018-07-24T11:25:05Z
dc.date.issued2014-04-26
dc.identifier.issn1750-1172
dc.identifier.urihttps://doi.org/10.1186/1750-1172-9-60
dc.identifier.urihttps://hdl.handle.net/11413/2298
dc.description.abstractBackground: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.tr_TR
dc.language.isoen_UStr_TR
dc.publisherBiomed Central Ltd, 236 Grays Inn Rd, Floor 6, London Wc1X 8Hl, Englandtr_TR
dc.relationOrphanet Journal Of Rare Diseasestr_TR
dc.subjectCathepsin Ktr_TR
dc.subjectPycnodysostosistr_TR
dc.subjectFracturetr_TR
dc.subjectCraniosynostosistr_TR
dc.subjectArnold Chiari malformationtr_TR
dc.subjectConverting-Enzyme Genetr_TR
dc.subjectDeletion Polymorphismtr_TR
dc.subjectLa Pycnodysostosetr_TR
dc.subjectMobile Elementstr_TR
dc.subjectMutationstr_TR
dc.subjectCraniosynostosistr_TR
dc.subjectActivationtr_TR
dc.subjectDiseasetr_TR
dc.subjectGenometr_TR
dc.titleCathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic featurestr_TR
dc.typeArticletr_TR
dc.contributor.authorID173248tr_TR
dc.contributor.authorID9240tr_TR
dc.contributor.authorID125860tr_TR
dc.contributor.authorID169245tr_TR
dc.contributor.authorID183446tr_TR
dc.contributor.authorID171694tr_TR
dc.contributor.authorID201621tr_TR
dc.contributor.authorID218579tr_TR
dc.contributor.authorID206057tr_TR
dc.contributor.authorID28175tr_TR
dc.contributor.authorID125850tr_TR
dc.identifier.wos335588000001
dc.identifier.scopus2-s2.0-84900329583


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