A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report. Issue 12 (March 2019)

• Record Type: Journal Article
• Authors: Kochar, Inder Pal Singh; Sethi, Aashish; Ahamad, Ayesha
• Is Part Of: Clinical medicine insights. Issue 12(2019)
• Publication Date: 2019-03
• Subjects: Pycnodysostosis -- CTSK gene -- novel variant; Clinical medicine -- Case studies -- Periodicals; Medicine; Clinical medicine; Electronic journals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; Case studies; Periodicals; 616.09
• DOI: 10.1177/1179547619837234
• Languages: English
• ISSNs: 1179-5476

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.