Chassaing-Lacombe 型軟骨異形成症; Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
概要
Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and inherited as an X-linked dominant trait. HDAC6 is a deacetylase that has numerous substrates, one of which is acetylated alpha tubulin. It is known that the level of alpha tubulin acetylation acts on the dynamic of microtubules, and therefore on cell motility and migration.
Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B
タイトル
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
