Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small σ subunit of the AP-1 complex. Central to the pathogenesis of MEDNIK syndrome is abnormal AP-1-mediated trafficking of copper transporters; this abnormal trafficking results in a hybrid phenotype combining the copper-deficiency-related characteristics of Menkes disease and the copper-toxicity-relat ed characteristics of Wilson disease.

Source: The American Journal of Human Genetics - October 16, 2019 Category: Genetics & Stem Cells Authors: Hessa S. Alsaif, Mohammad Al-Owain, Martin E. Barrios-Llerena, Ghada Gosadi, Yousef Binamer, David Devadason, Jane Ravenscroft, Mohnish Suri, Fowzan S. Alkuraya Tags: Report Source Type: research