title: The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).
abstract: The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplasia. Investigations have recently drawn on the similar radiographic features of those conditions to define a new family of skeletal dysplasias caused by mutations in the transient receptor potential cation channel vanilloid 4 (TRPV4). This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene.
authors.affiliation: International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA. stefan.nemec@meduniwien.ac.at
authors.forename: Stefan F
authors.initials: SF
authors.lastname: Nemec
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Cohn
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
authors.forename: Vincent A
authors.initials: VA
authors.lastname: Funari
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D005810:Multigene Family / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011859:Radiography; D055009:Spondylosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human