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

Arya Shambhavi; Smrithi Salian; Hitesh Shah; Mohandas Nair; Krishna Sharan; Dong-Kyu Jin; Sung Yoon Cho; Mary Mathew; Anju Shukla; Katta M. Girisha

doi:10.1055/s-0037-1604100

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2018; 07(01): 009-013
DOI: 10.1055/s-0037-1604100

Original Article

Georg Thieme Verlag KG Stuttgart · New York

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

Arya Shambhavi^*

¹Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Smrithi Salian^*

¹Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Hitesh Shah

²Department of Orthopaedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Mohandas Nair

³Department of Pediatrics, Government Medical College, Kozhikode, India

,

Krishna Sharan

⁴Department of Radiotherapy, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Dong-Kyu Jin

⁵Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

,

Sung Yoon Cho

⁵Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea

,

Mary Mathew

⁶Department of Pathology, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Anju Shukla

¹Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

,

Katta M. Girisha

¹Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

› Author Affiliations

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 + 1G > T in intron 2, c.399 + 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.

Keywords

pycnodysostosis - cathepsin K - giant cell tumor

Full Text

References

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Supplementary Material

Supplementary Material