A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
- PMID: 30967749
- PMCID: PMC6444763
- DOI: 10.1177/1179547619837234
A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report
Abstract
Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.
Keywords: CTSK gene; Pycnodysostosis; novel variant.
Conflict of interest statement
Declaration of conflicting interests:The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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