Ontology highlight
ABSTRACT:
SUBMITTER: Kruszka P
PROVIDER: S-EPMC6506867 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Kruszka Paul P Berger Seth I SI Weiss Karin K Everson Joshua L JL Martinez Ariel F AF Hong Sungkook S Anyane-Yeboa Kwame K Lipinski Robert J RJ Muenke Maximilian M
American journal of human genetics 20190418 5
Holoprosencephaly is the incomplete separation of the forebrain during embryogenesis. Both genetic and environmental etiologies have been determined for holoprosencephaly; however, a genetic etiology is not found in most cases. In this report, we present two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CCR4-NOT transcription complex, subunit 1 (CNOT1). The variant (c.1603C>T [p.Arg535Cys]) is predicted to be deleterious and is ...[more]