Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

• Authors: VAN SCHERPENZEEL Monigue; TIMAL Sharita; RYMAN Daisy; HOISCHEN Alexander; WUHRER Manfred; HIPGRAVE-EDERVEEN Agnes; GRUNEWALD Stephanie; PEANNE Romain; SAADA Ann; EDVARDSON Shimon; GRONBORG Sabine; RUITER George; KATTENTIDT-MOURAVIEVA Anna; BRUM Jaime Moritz; FRECKMANN Mary-Loise; TOMKINS Susan; JALAN Anil; PROCHÁZKOVÁ Dagmar; ONDRUŠKOVÁ Nina; HANSÍKOVÁ Hana; WILLEMSEN Michael; HENSBERGEN Paul; MATTHIJS Gert; WEWERS Ron; VELTMAN Joris; MORAVA Eva; LEFEBER Dirk
• Year of publication: 2014
• Type: Article in Periodical
• Magazine / Source: Brain
• MU Faculty or unit: Faculty of Medicine
• Web: http://www.brain.oxfordjournals.com
• Doi: http://dx.doi.org/10.1093/brain/awu019
• Field: Paediatry
• Keywords: MAN1B1; intellectul disability; CDG; biomarker
• Description: CDG comprise a group of genetic defects with a high frequency of intellectual disability, caused by deficient glykosylation of proteins and lipids. The molecular basis of the majority of the congenital disorders of glycosylation type I subtypes, localised in the cytosol and endoplasmic reticulum, has been solved. However, elucidation of causative genes for defective Golgi glycosylation remains challenging because of lack of sufficiently specific diagnostic serum methods. In a single patient with intellectual diaability, whole-exome sequencing revealed MAN1B1 as congenital disorder of glycosylation type II candidate gene.