Hypermobile Ehlers Danlos for the Primary Care Provider.

Joint hypermobility is very common in the general population as is arthralgia. Increased awareness of hypermobility and hypermobile Ehlers Danlos Syndrome (hEDS) among patients and providers has led to a surge in demand for evaluation. Many patients with hypermobility meet clinical criteria for a diagnosis of hypermobile spectrum disorder (HSD) or hEDS, but monogenic connective tissue diseases (CTD) are rare.

Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.

About 15% of congenital heart disease (CHD) patients have a known pathogenic copy number variant. The majority of their chromosomal microarray (CMA) tests are deemed normal. Diagnostic interpretation typically ignores microdeletions smaller than 100 kb.

Clinical and molecular characteristics of a novel rare variant in in a patient with a developmental disorder, autism, and epilepsy.

PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are , encoding the PP2A regulatory B56δ subunit; , encoding the scaffolding Aα subunit; and , encoding the catalytic Cα subunit-in that order of frequency. Patients with a pathogenic mutation in one of these genes, in part, present with overlapping features, such as generalized hypotonia, intellectual and developmental delay, facial dysmorphologies, seizures, and autistic features, and, in part, with opposite features, e.

Emerging mechanisms of elastin transcriptional regulation.

Elastin provides recoil to tissues that stretch such as the lung, blood vessels, and skin. It is deposited in a brief window starting in the prenatal period and extending to adolescence in vertebrates, and then slowly turns over. Elastin insufficiency is seen in conditions such as Williams-Beuren syndrome and elastin-related supravalvar aortic stenosis, which are associated with a range of vascular and connective tissue manifestations.