https://www.selleckchem.com/products/wp1066.html We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1; NM_014975.3c.1565G>Ap.(Gly522Glu)) that encodes for the MAST1. Only 12 patients have been identified worldwide with 10 different variants in this gene six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. Our patient shows a new phenotypic subtype defined by mega-corpus-callosum syndrome with cortical malformations without cerebellar hypoplasia. In conclusion, our data expand the phenotypic spectrum associated to MAST1 gene variants. © 2020 Wiley Periodicals, Inc.Crassostrea hongkongensis is a popular and important native oyster species that is mainly cultured along the coast of the South China Sea. However, the absence of reference genome has restricted genetic studies and the development of molecular breeding schemes for this species. Here, we combined PacBio and 10× Genomics technologies to create a C. hongkongensis genome assembly, which has a size of 610 Mb, and is close to the estimation of flow cytometry estimation (~650 Mb). Contig and scaffold N50 are 2.57 Mb and 4.99 Mb, respectively, and BUSCO analysis indicates 95.8% of metazoan conserved genes were completely represented. With the aid of a high-density linkage map of its closely species, C. gigas, a total of 521 Mb (85.4%) were anchored to 10 haploid chromosomes