DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients

Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG

Wild Oryza for quality improvement

Rice consumers demand a wide range of attributes in the different types of rice produced in different regions. Wild Oryza species provide an extensive gene pool that could be used to breed rice varieties with desirable quality characteristics. More than 20 Oryza species are found around the tropical world in diverse environments and have a wide range of grain properties. Traits influencing grain appearance, nutritional value, functional quality (e.g., cooking characteristics), and processing performance may be sourced from wild species. The useful genes available include many controlling grain size and shape, grain color, and starch properties. Advances in genomic technology are making this genetic diversity more readily available for use in the genetic improvement of rice beyond just advancing yield