title: Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.
abstract: Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: Margarita
authors.initials: M
authors.lastname: Valdes-Flores
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: Alberto
authors.initials: A
authors.lastname: Hidalgo-Bravo
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: L
authors.initials: L
authors.lastname: Casas-Avila
authors.affiliation: Department of Genomic Medicine, National Medical Center 20th of November, ISSSTE Mexico City, Mexico.
authors.forename: Carmen
authors.initials: C
authors.lastname: Chima-Galan
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Hazan-Lasri
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: Ernesto
authors.initials: E
authors.lastname: Pineda-Gomez
authors.affiliation: Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
authors.forename: Druso
authors.initials: D
authors.lastname: Lopez-Estrada
authors.affiliation: Department of Biochemistry, Faculty of Medicine, UNAM and Department of Genetics, Institute of Ophthalmology "Conde de Valenciana" Mexico City, Mexico.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
keywords: Cathepsin K; Pyknodysostosis; bone; dysplasia; sclerosing