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Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)
Jaime Toral-López1, Luz Maria Gonzalez-Huerta, Blanca Sosa
1Departamento de Genética, Centro Médico ISSEMYM, Ecatepec, Edo. Mex., Servicio de Genética, Hospital General de México, México DF, Mexico.
Background:
Pycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized on 1q21.
Purpose:
To describe the clinical, radiological, and molecular findings in a family with pycnodysostosis.
Methods:
The CTSK gene was analyzed from genomic DNA in a nonconsanguinity Mexican family with 3 affected members with pycnodysostosis and 100 healthy controls.
Results And Interpretation:
We identified the novel homozygous mutation c.908G>A within exon 8 of the CTSK gene. This missense mutation leads to the substitution of the amino acid glycine at position 303 by glutamic acid (G303E) in cathepsin K protease. No genotype/phenotype correlation was present in affected members of the family with pycnodysostosis.
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