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.

A First-Case Report of Pycnodysostosis in an Omani Boy

“…A further study, conducted by Pangrazio in 2014, reported on affected children in two Italian families from different ethnic backgrounds who presented with osteopetrosis and a PKND phenotype 5 (►Table 2). Recently, novel CTSK variants were reported in a 4-year-old Afghani boy (c.847T > C, p.Y283H) 6 and in an Iranian boy (c.905G > A, p.Trp320X). 7 We presented here a 9-year-old Omani male child patient with a novel variant of the CTSK gene causing PKND.…”