Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (:c.336dup).

Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese γ(γδβ)-thal deletion and a novel frameshift mutation within exon 3 (:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (--/αα).

β-Thalassemia Caused by a Novel Nonsense Mutation [c.199A > T].

We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal.

Splice Acceptor Mutation [:c.93-2A > T] in a Patient with Hb S/β-Thalassemia.

We report a case of Hb S/β-thalassemia (Hb S/β-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, :c.93-2A > T).

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline based on a set of shared standards for the classification of variants in Mendelian diseases. The generality of these standards and their subjective interpretation between laboratories has prompted efforts to reduce discordance of variant classifications, with a focus on the expert specification of the ACMG/AMP guidelines for individual genes or diseases.

expression correlates with epithelial mesenchymal transition-linked genes and poor overall survival in colon cancer patients.

Background: Colon cancer is among the most commonly diagnosed cancers in the United States with an estimated 97220 new cases expected by the end of 2018. It affects 1.2 million people around the world and is responsible for about 0.

COMP Gene Coexpresses With EMT Genes and Is Associated With Poor Survival in Colon Cancer Patients.

Background: About 1.2 million new cases of colon cancer (CC) and 0.6 million deaths are reported every year, establishing CC as an important contributor to worldwide cancer morbidity and mortality.

Analysis of the transcriptomes downstream of Eyeless and the Hedgehog, Decapentaplegic and Notch signaling pathways in Drosophila melanogaster.

Tissue-specific transcription factors are thought to cooperate with signaling pathways to promote patterned tissue specification, in part by co-regulating transcription. The Drosophila melanogaster Pax6 homolog Eyeless forms a complex, incompletely understood regulatory network with the Hedgehog, Decapentaplegic and Notch signaling pathways to control eye-specific gene expression. We report a combinatorial approach, including mRNAseq and microarray analyses, to identify targets co-regulated by Eyeless and Hedgehog, Decapentaplegic or Notch.

Risk factors for African tick-bite fever in rural central Africa.

African tick-bite fever is an emerging infectious disease caused by the spotted fever group Rickettsia, Rickettsia africae, and is transmitted by ticks of the genus Amblyomma. To determine the seroprevalence of exposure to R. africae and risk factors associated with infection, we conducted a cross-sectional study of persons in seven rural villages in distinct ecological habitats of Cameroon.