Article
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Clinical genetics - 1 Oct 2020
Mandel Hanna, Cohen Kfir Nehama, Fedida Ayalla, Shuster Biton Efrat, Odeh Marwan, Kalfon Limor, Ben-Harouch Shani, Fleischer Sheffer Vered, Hoffman Yoav, Goldberg Yael, Dinwiddie April, Dumin Elena, Eran Ayelet, Apel-Sarid Liat, Tiosano Dov, Falik-Zaccai Tzipora C
Abstract excerpt
COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26 bp in COG6, creating a splicing variant (c.518_540 + 3del) and a shift in the reading frame. The phenotype of COG6-CDG includes growth and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.