PubMed 21863289

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: TRP , TRPV , TRPV4

Title: The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Authors: Stefan F Nemec, Daniel H Cohn, Deborah Krakow, Vincent A Funari, David L Rimoin, Ralph S Lachman

Journal, date & volume: Pediatr Radiol, 2012 Jan , 42, 15-23

PubMed link:

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.