We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis: a one base transition in exon8, c926T &gt; C, causing a single amino acid substitution leucine--&gt;proline, L309P; A 3' splice site mutation in intron 2, c121-1G &gt; A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G &gt; A leading to residue G79E.
C0238402
Pycnodysostosis