Chondrodysplasia Chassaing-Lacombe type

Definition:

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.

References:

[1]. Delphine Simon, et al. 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. Hum Mol Genet. 2010 May 15;19(10):2015-27. [Content Brief]

[2]. Nicolas Chassaing, et al. X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.