Ontology highlight
ABSTRACT:
SUBMITTER: Okamoto N
PROVIDER: S-EPMC8618856 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Okamoto Nobuhiko N Ohto Tatsuyuki T Enokizono Takashi T Wada Yoshinao Y Kohmoto Tomohiro T Imoto Issei I Haga Yoshimi Y Seino Junichi J Suzuki Tadashi T
Cells 20211110 11
Congenital disorders of glycosylation (CDG), inherited metabolic diseases caused by defects in glycosylation, are characterized by a high frequency of intellectual disability (ID) and various clinical manifestations. Two siblings with ID, dysmorphic features, and epilepsy were examined using mass spectrometry of serum transferrin, which revealed a CDG type 2 pattern. Whole-exome sequencing showed that both patients were homozygous for a novel pathogenic variant of <i>MAN1B1</i> (NM_016219.4:c.18 ...[more]