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Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
Toral-López, Jaime; Gonzalez-Huerta, Luz Maria; Sosa, Blanca; Orozco, Sócrates; González, Hugo Peláez; Cuevas-Covarrubias, Sergio A.
Afiliação
  • Toral-López J; Departamento de Genética, Centro Médico ISSEMYM, Ecatepec, Edo. Mex., Servicio de Genética, Hospital General de México, México DF, Mexico.
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.
Assuntos

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 / 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

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 / 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