All red rice found in commercial rice in the United States has traditionally been classified as Oryza sativa ssp. indica. This assumption was tested by analyzing red rice samples collected from across the southern United States rice belt with 18 simple sequence length polymorphism (SSLP) markers distributed across all 12 chromosomes. The results clearly demonstrate that the traditional classification of red rice is inadequate. Some red rice is closely related to O. sativa ssp. indica cultivated rice. However, other red rice is more closely related to O. sativa ssp. japonica. Most importantly, some red rice samples collected from Arkansas, Louisiana, Mississippi, and Texas form a distinct group that includes a number of Oryza nivara and Oryza rufipogon accessions from the National Small Grains Center. In particular, red rice samples from three states were identified that for all 18 markers are identical to the O. rufipogon accession IRGC 105491. These different classes of red rice are intermingled across the southern U.S. rice belt and within individual production fields. Oryza sativa ssp. indica-like red rice and O. rufipogon-like red rice have been found within a single 9-m2 collection site. While the classification of red rice as O. sativa ssp. indica, O. sativa ssp. japonica, or O. rufipogon using DNA markers is generally in agreement with classification based on simple morphological traits, readily observed morphological traits alone are not sufficient to reliably classify red rice. Because red rice is much more diverse than previously assumed, this diversity must be considered when developing red rice management strategies.

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In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we applied wholeexome sequencing to members of a non-consanguineous family affected by a previously unreported congenital dilated cardiomyopathy syndrome necessitating early-onset heart transplant. Exome analysis identified compound heterozygous variants in the FLNC gene. Histological analysis of the cardiac muscle demonstrated marked sarcomeric and myofibrillar abnormalities, and immunohistochemical staining demonstrated the presence of Filamin C aggregates in cardiac myocytes. We conclude that biallelic variants in FLNC can cause congenital dilated cardiomyopathy. As the associated clinical features of affected patients are mild, and can be easily overlooked, testing for FLNC should be considered in children presenting with dilated cardiomyopathy.

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the proband was presented with a complex phenotype consisting of developmental delay, dysmorphism, and non-compaction cardiomyopathy. Exome analysis identified a novel de novo splice-site variant c.1171 +1G4T in exon 11 of NONO gene that is suspected to abolish the donor splicing site. Thus, we propose that the phenotypic spectrum of NONO-related disorder is much broader than described and that pathogenic variants in NONO cause a recognizable phenotype.

Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. While considered to be an autosomal recessive state affecting a few dozens of individuals world-wide and involving the PNLIP gene, no causative mutations for this phenotype were so far reported. Here, we report the identification of the homozygote missense mutation, Thr221Met [c.662C>T], in two brothers from a consanguineous family of Arab ancestry. The observed genotypes among the family members were concordant with an autosomal recessive mode of inheritance but moreover a clear segregation between the genotype state and the serum PNLIP activity was evident. Based on biophysical computational tools, we suggest the mutation disrupts the protein's stability and impairs its normal function. Although the role of PNLIP is well established, our observations provide genetic evidence that PNLIP mutations are causative for this phenotype.