Chondrodysplasia Chassaing-Lacombe type; Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02260 Chondrodysplasia Chassaing-Lacombe type
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
Title
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.
