Background-Hereditary lymphoedemadistichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion, and congenital cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families. Methods-The clinical findings in seven additional families with LD, including the original family described by Falls and Kertesz, were determined and mutational analyses were performed. Results-Distichiasis was the most common clinical feature followed by age dependent lymphoedema. There is a wide variation of associated secondary features including tetralogy of Fallot and cleft palate. The mutational analyses identified truncating mutations in all of the families studied (two nonsense, one deletion, three insertion, and one insertion-deletion), which most likely result in haploinsuYciency of FOXC2. Conclusions-FOXC2mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations. (J Med Genet 2001;38:761-766)

No abstract

The All of Us Research Program, a health and genetics epidemiologic data collection, has been substantially affected by the COVID-19 pandemic. Although the program is highly digital in nature, certain aspects of the data collection require in-person interaction between staff and participants. Before the pandemic, the program was enrolling approximately 12,500 participants per month at more than 400 clinic sites. In March 2020, all in-person activity at sites and by engagement partners was paused to develop processes and procedures for in-person activities that incorporate strict safety protocols because of the pandemic. In addition, the program adopted new data collection methodologies to reduce the need for in-person activities. Through February 2022, 224 clinic sites have reactivated in-person activity, and all enrollment and engagement partners have adopted new data collection methodologies that can be completed remotely. As the COVID-19 pandemic persists, the program continues to require safety procedures for in-person activity and continues to generate and pilot methodologies that reduce risk and make it easier for participants to provide information.