Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2011
Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
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Toral-López Jaime, Gonzalez-Huerta Luz Maria, Sosa Blanca, Orozco Sócrates, González Hugo Peláez, Cuevas-Covarrubias Sergio A
Аннотация
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.
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.