A Recurrent Mutation in CTSK Gene is Responsible for Autosomal Recessive Pycnodysostosis in Consanguineous Pakistani Families
A Recurrent Mutation in CTSK Gene is Responsible for Autosomal Recessive Pycnodysostosis in Consanguineous Pakistani Families
Mehran Kausar1,2, Naveed Ashraf3, Farzana Hayat4, Asraf Hussain Hashmi1, Saima Siddiqi1,* and Mariam Anees2
Pedigree of the affected family showing 3 affected male members and a normal female.
Clinical presentation of affected individuals A, beaked nose and mild bluish sclerae/prominent eyes (masked)e; B, stubby hands with coarse skin and grooved/flattend nails.
Radiological presentation of affected individuals: A, dense orbital rims; B, acro-osteolysis of distal phalanges; C, defects between thoracolumbar vertebrae; D, dense and thickened cortices of lower limbs.
Sequencing result, arrow on left panel indicates the heterozygous and arrow on right panel indicates the homozygous mutation.
In silico examination of mutation and resultant protein: A, schematic structure of the original (left) and the mutant (right) amino acid; B, overview of the protein in ribbon-presentation. The protein is coloured by element; alpha helix, blue; beta strand, red; turn, green; 3/10 Helix, Yellow; random coil, cyan; C, Close up of mutation from two slightly different angles. The protein is coloured grey, the side chains of both the wild type and the mutant residue are shown and coloured green and red, respectively.
