title: Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).
abstract: 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.
authors.affiliation: Departamento de Genética, Centro Médico ISSEMYM, Ecatepec, Edo. Mex., Servicio de Genética, Hospital General de México, México DF, Mexico.
authors.forename: Jaime
authors.initials: J
authors.lastname: Toral-López
authors.forename: Luz Maria
authors.initials: LM
authors.lastname: Gonzalez-Huerta
authors.forename: Blanca
authors.initials: B
authors.lastname: Sosa
authors.forename: Sócrates
authors.initials: S
authors.lastname: Orozco
authors.forename: Hugo Peláez
authors.initials: HP
authors.lastname: González
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D056657:Cathepsin K / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D058631:Pycnodysostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C534130:CTSK protein, human; D056657:Cathepsin K