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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

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Author
Arman, Ahmet
Bereket, Abdullah
Çoker Gürkan, Ajda
Şimşek Kiper, Pelin Özlem
Güran, Tülay
Özkan, Behzat
Atay, Zeynep
Akçay, Teoman
Haliloğlu, Belma
Boduroğlu, Koray
Alanay, Yasemin
Turan, Serap
Type
Article
Date
2014-04-26
Language
en_US
Metadata
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Abstract
Background: 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.
Subject
Cathepsin K
Pycnodysostosis
Fracture
Craniosynostosis
Arnold Chiari malformation
Converting-Enzyme Gene
Deletion Polymorphism
La Pycnodysostose
Mobile Elements
Mutations
Craniosynostosis
Activation
Disease
Genome
URI
https://doi.org/10.1186/1750-1172-9-60
https://hdl.handle.net/11413/2298
Collections
  • Makaleler / Articles [140]
  • Scopus Publications [724]
  • WoS Publications [1016]

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Hakkında |Politika | Kütüphane | İletişim | Send Feedback | Admin

Istanbul Kültür University, Ataköy Campus E5 Karayolu Üzeri Bakırköy 34158, İstanbul / TURKEY
Copyright © İstanbul Kültür University

Creative Commons Lisansı
IKU Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

Designed by  UNIREPOS