Congenital heart disease (CHD) affects up to 1 % of live births1. Although a genetic etiology is indicated by an increased recurrence risk2,3, sporadic occurrence suggests that CHD genetics is complex4. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS5–7. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD.

The last few decades have witnessed an appalling rise in several emerging and re-emerging viral and zoonotic outbreaks. Such outbreaks are a lesson to learn from and seek insight into better disease monitoring and surveillance, thus preventing future outbreaks. Monkeypox, a viral zoonotic illness caused by the monkeypox virus, may no longer be endemic to the tropical rainforests of Central and West Africa. However, the current monkeypox outbreak in nonendemic countries is most likely due to failure to curb the disease dissemination in endemic African regions despite decades of constant outbreaks. The clinical manifestations are typified by a prodromal phase (fever, myalgia, malaise, and lymphadenopathy) followed by maculopapular or vesicular, or pustular cutaneous eruptions that eventually form encrustations and peel off. Children and the elderly, pregnant females, and individuals living with comorbidities (diabetes, HIV/AIDS, and lymphoproliferative ailments) are at a high risk of severe disease. Monkeypox is a self-limiting disorder, but its complications and pandemic potential signify its immense public health relevance. The recent ongoing monkeypox outbreak in nonendemic nations areas was identified with increased propensity in men who have sex with men (MSMs) with no travel history to endemic regions, emphasizing the changing trends in disease transmission. This review article provides an updated overview of the monkeypox disease taxonomy, pathogenesis, transmission, epidemiology, clinical and oral features, diagnostic aids, differential diagnosis, preventive aspects, and treatment protocol.

Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorouracil and regular consultations with dermatologists, ophthalmologists, neurologists and dentists forms an important part of the treatment protocol. This paper aims to throw light on the etiopathogenesis, clinical features and treatment modalities of this life threatening disease. There is also a special mention on the oral manifestations and dental health considerations of the rare disorder.

Ebola virus disease (EVD), a fatal viral hemorrhagic illness, is due to infection with the Ebola virus of the Filoviridae family. The disease has evolved as a global public health menace due to a large immigrant population. Initially, the patients present with nonspecific influenza-like symptoms and eventually terminate into shock and multiorgan failure. There exists no specific treatment protocol for EVD and only supportive and symptomatic therapy is the line of treatment. This review article provides a detailed overview of the Ebola virus; it's clinical and oral manifestations, diagnostic aids, differential diagnosis, preventive aspects, and management protocol.