This website provides information on patients with mutations in the UNC45A gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the UNC45A gene is called osteo-oto-hepato-enteric syndrome (O2HE). It is a multisystem disorder first characterized by the presence of symptoms secondary to abnormal polarization of enterocytes and hepatocytes, i.e. congenital diarrhea and/or cholestasis, associated or not with deafness and bone fragility. This disorder seems to be associated to learning disability and possibily with congenital malformations, with high clinical heterogeneity. Not all individuals with a mutation in the UNC45A gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide adapted care of patients with mutations in the UNC45A gene.
Laurence Faivre, PhD, Genetics Center, Dijon Hospital, Dijon, France, Laurence.firstname.lastname@example.org
Caroline Racine, Genetics resident, Genetics center, Dijon Hospital, Dijon, France, email@example.com