Newborn screening for Duchenne muscular dystrophy gains support: researchers to push for federal recommendation to have states add DMD test to newborn panel.

RESEARCH UPDATE " Researchers should consider MOZ activity as a factor causing variability in DiGeorge syndrome and 22q11 deletion syndrome, " Dr. Voss says. Research Implications Voss's findings are important because they point to a mechanism at play in more severe disease, says Paula Goldenberg, MD, Assistant Professor in the University of Cincinnati School of Medicine's Department of Pediatrics in Ohio. " Histone acetylates like MOZ may have something to do with it, " Dr. Goldenberg says. " If we know the mechanism for more severe disease, we may determine for parents whether or not their children might be at risk for the more severe phenotype. " Previous research has found that common mutations in Tbx1 do not explain variable cardiovascular expression in more than 1,000 patients with 22q11 deletion. Instead, studies have implicated the existence of modifiers in other genes on 22q11, and elsewhere in the genome (Guo et al., 2011). In contrast, Dr. Voss's paper suggests new pathways to examine, " The connection between MOZ and retinoic acid—that a MOZ mutation sensitizes an embryo to retinoic acid—is as interesting as the interaction between MOZ and Tbx1 because it's an environmental factor, " adds Dr. Morrow. " People want to know: Could alterations in genes or their expression increase sensitivity to environmental exposure? That's what this paper implies. We all know environment can play a role in congenital heart disease. This paper connects MOZ activity to the environment. " However, any future research that better explains the link would need to be proven in humans to have any clinical relevance, Dr. Morrow points out. " This paper won't help a child with DiGeorge syndrome right now, but it's a tool for understanding how environmental signals can regulate genes, " she adds. 2011. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. S purred by recent research showing successful newborn screening of Ohio newborns for Duchenne muscular dystrophy (DMD), some researchers and advocates plan to ask the federal Department of Health and Human Services (HHS) to recommend that states add the disorder to newborn screening panels. Researcher Jerry Mendell, MD, is considering nominating DMD for a Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) newborn screening recommendation. SACHDNC's recommendation must precede any from HHS. States make their own decisions regarding what to include on newborn screening panels, but are usually influenced by HHS's …