Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

We investigated a large consanguineous family from Pakistan comprising multiple affected individuals with intellectual disability and epilepsy. Using a combination of next-generation and classical sequencing methods, we identified a bi-allelic missense mutation p.R53Q in the LMAN2L gene only in the patients and not in the unaffected family members. LMAN2L encodes for a protein playing a central role in quality control processes of protein glycosylation. This is the first report linking LMAN2L to the phenotype of severe intellectual disability and seizures. (By Rafiullah Rafiullah & Dr. Simone Berkel, http://jmg.bmj.com/content/early/2015/11/13/jmedgenet-2015-103179 )