Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
الكلمات الدالة
نبذة مختصرة
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.
OBJECTIVE
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.
CONCLUSIONS
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.