The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome.

Naturalists have been fascinated for centuries by animal colors and color patterns. While widely studied at the adult stage, we know little about color patterns in the embryo. Here, we study a trait consisting of coloration that is specific to the embryo and absent from postembryonic stages in water striders (Gerromorpha). By combining developmental genetics with chemical and phylogenetic analyses across a broad sample of species, we uncovered the mechanisms underlying the emergence and diversification of embryonic colors in this group of insects. We show that the pteridine biosynthesis pathway, which ancestrally produces red pigment in the eyes, has been recruited during embryogenesis in various extraocular tissues including antennae and legs. In addition, we discovered that this cooption is common to all water striders and initially resulted in the production of yellow extraocular color. Subsequently, 6 lineages evolved bright red color and 2 lineages lost the color independently. Despite the high diversity in colors and color patterns, we show that the underlying biosynthesis pathway remained stable throughout the 200 million years of Gerromorpha evolutionary time. Finally, we identified erythropterin and xanthopterin as the pigments responsible for these colors in the embryo of various species. These findings demonstrate how traits can emerge through the activation of a biosynthesis pathway in new developmental contexts.

BackgroundDiversity and distribution of Neotropical aquatic insects is still poorly known, with many species to be recorded and many others to be described, due to the small number of taxonomists and sparse faunistic studies. This knowledge is especially poor in the Caatinga Domain in Northeastern Brazil, even though, this region may have played an important historical role in the spatial evolution of faunas of forested areas in northern South America.New informationAquatic insect checklists of 96 species from Parque Nacional de Ubajara (Ceará State, Brazil) and 112 species from Parque Nacional de Sete Cidades (Piauí State, Brazil) are presented, representing the following taxa: Elmidae, Epimetopidae, Hydrophilidae, and Torridincolidae (Coleoptera), Hemerodromiinae (Diptera: Empididae), Ephemeroptera, Gerromorpha and Nepomorpha (Hemiptera), Odonata, Plecoptera, and Trichoptera. Because of the scarce number of biological inventories in Northeastern Brazil, several new distributional records (of species, genera, and families) for Brazil, Northeastern Brazil, and Ceará and Piauí states are provided. In addition, several undescribed species were detected, being 26 from Ubajara and 20 from Sete Cidades. Results represent a significant increase to the known fauna of these states, ranging from 13%-70% increase for Ceará and 41% to 91% increase for Piauí. Although both parks are relatively close to each other and within the Caatinga domain, their aquatic fauna display a very high complementarity (89% species), possibly due to structural differences of water bodies sampled in each park. Rarefaction curves based on quantitative light trap samples suggest a much higher expected species richness of aquatic insects at Sete Cidades than at Ubajara National Park. Discussion on biogeographical affinities of this sample of the Caatinga fauna is provided.

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BackgroundWater bugs in general play an important role in freshwater ecosystems, and knowledge about them is essential for the study of water biology and the proper management of aquatic habitats. The Neotropical fauna is relatively well known, but the existence of large under-collected areas makes taxonomic and faunistic studies concerning the aquatic and semiaquatic bugs from tropical America urgent.New informationDistributional information is presented for thirty-eight species of Gerromorpha and five Nepomorpha, including first records from the Brazilian states of Bahia (Mesovelia amoena), Ceará (Limnogonus profugus and Rhagovelia whitei), Espírito Santo (R. lucida), Goiás (Halobatopsis platensis and R. zela), Mato Grosso (Rheumatobates bonariensis), Pará (Nerthra terrestris), Paraná (H. spiniventris, Hydrometra fruhstorferi and R. janeira), Piauí (Microvelia ayacuchana, M. pulchella, Neogerris lubricus and Platyvelia brachialis), Rio de Janeiro (Martarega bentoi) and São Paulo (Rheumatobates minutus flavidus); and the Peruvian region of Madre de Dios (Rhagovelia fontanalis).