Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

Shambhavi, Arya and Salian, Smrithi and Shah, Hitesh and Sharan, Krishna and Mathew, Mary and Shukla, Anju and Katta, Girisha M (2018) Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor. Journal of Pediatric Genetics, 7 (1). pp. 9-13. ISSN 2146-4596

[img] PDF
4020 DisplayPdf.pdf - Published Version
Restricted to Registered users only

Download (305kB) | Request a copy

Abstract

Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K (CTSK) gene. We report seven patients from four unrelated families with this condition in whom we have identified three novel pathogenic variants, c.120 þ 1G > T in intron 2, c.399 þ 1G > A in intron 4, and c.148T > G (p.W50G) in exon 2, and a known variant, c.568C > T (p.Q190�) in exon 5 of CTSK. We present the clinical, radiographic, and molecular findings of all individuals with molecularly proven pycnodysostosis from the present cohort. We also report the occurrence of giant cell tumor in the skull of a patient with this condition

Item Type: Article
Uncontrolled Keywords: Pycnodysostosis; Cathepsin K ; Giant cell tumor
Subjects: Medicine > KMC Manipal > Anatomy
Medicine > KMC Manipal > Orthopaedics
Medicine > KMC Manipal > Pathology
Medicine > KMC Manipal > Radiotherapy and Oncology
Depositing User: KMC Library
Date Deposited: 21 Feb 2018 04:38
Last Modified: 21 Feb 2018 04:38
URI: http://eprints.manipal.edu/id/eprint/150620

Actions (login required)

View Item View Item