Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124∗]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.

Source: The American Journal of Human Genetics - January 21, 2016 Category: Genetics & Stem Cells Authors: Megan S. Kane, Mariska Davids, Christopher Adams, Lynne A. Wolfe, Helen W. Cheung, Andrea Gropman, Yan Huang, NISC Comparative Sequencing Program, Bobby G. Ng, Hudson H. Freeze, David R. Adams, William A. Gahl, Cornelius F. Boerkoel Tags: Report Source Type: research