Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
J Investig Med
; 59(2): 277-80, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21099701
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catepsina K
/
Picnodisostose
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Child
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Female
/
Humans
/
Male
Idioma:
En
Revista:
J Investig Med
Assunto da revista:
MEDICINA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Reino Unido