Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.3637Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

Clinical and molecular characterization of a brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46,XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype-phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia

Brazilian Flora 2020: Leveraging the power of a collaborative scientific network

The shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiver sity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxo nomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world’s known plant species than any other country. Despite that, Flora Brasiliensis, concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world’s most biodiverse countries. We further identify collection gaps and summarize future goals that extend be yond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still un equally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the coun try. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora.Fil: Gomes da Silva, Janaina. Jardim Botânico do Rio de Janeiro: Rio de Janeiro, BrasilFil: Filardi, Fabiana L.R. Jardim Botânico do Rio de Janeiro; BrasilFil: Barbosa, María Regina de V. Universidade Federal da Paraíba: Joao Pessoa; BrasilFil: Baumgratz, José Fernando Andrade. Jardim Botânico do Rio de Janeiro; BrasilFil: de Mattos Bicudo, Carlos Eduardo. Instituto de Botânica. Núcleo de Pesquisa em Ecologia; BrasilFil: Cavalcanti, Taciana. Empresa Brasileira de Pesquisa Agropecuária Recursos Genéticos e Biotecnologia; BrasilFil: Coelho, Marcus. Prefeitura Municipal de Campinas; BrasilFil: Ferreira da Costa, Andrea. Federal University of Rio de Janeiro. Museu Nacional. Department of Botany; BrasilFil: Costa, Denise. Instituto de Pesquisas Jardim Botanico do Rio de Janeiro; BrasilFil: Dalcin, Eduardo C. Rio de Janeiro Botanical Garden Research Institute; BrasilFil: Labiak, Paulo. Universidade Federal do Parana; BrasilFil: Cavalcante de Lima, Haroldo. Jardim Botânico do Rio de Janeiro; BrasilFil: Lohmann, Lucia. Universidade de São Paulo; BrasilFil: Maia, Leonor. Universidade Federal de Pernambuco; BrasilFil: Mansano, Vidal de Freitas. Instituto de Pesquisas Jardim Botânico do Rio de Janeiro; Brasil. Jardim Botânico do Rio de Janeiro; BrasilFil: Menezes, Mariângela. Federal University of Rio de Janeiro. Museu Nacional. Department of Botany; BrasilFil: Morim, Marli. Instituto de Pesquisas Jardim Botânico do Rio de Janeiro; BrasilFil: Moura, Carlos Wallace do Nascimento. Universidade Estadual de Feira de Santana. Department of Biological Science; BrasilFil: Lughadha, Eimear NIck. Royal Botanic Gardens; Reino UnidoFil: Peralta, Denilson. Instituto de Pesquisas Ambientais; BrazilFil: Prado, Jefferson. Instituto de Pesquisas Ambientais; BrasilFil: Roque, Nádia. Universidade Federal da Bahia; BrasilFil: Stehmann, Joao. Universidade Federal de Minas Gerais; BrasilFil: da Silva Sylvestre, Lana. Universidade Federal do Rio de Janeiro; BrasilFil: Trierveiler-Pereira, Larissa. Universidade Estadual de Maringá. Departamento de Análises Clínicas e Biomedicina; BrasilFil: Walter, Bruno Machado Teles. EMBRAPA Cenargen Brasília; BrasilFil: Zimbrão, Geraldo. Universidade Federal do Rio de Janeiro; BrasilFil: Forzza, Rafaela C. Jardim Botânico do Rio de Janeiro; BrasilFil: Morales, Matías. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Recursos Biológicos; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Morón. Facultad de Agronomía y Ciencias Agroalimentarias; Argentin

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia. TONSL is a multi-domain scaffold protein that interacts with DNA replication and repair factors and which plays critical roles in resistance to replication stress and the maintenance of genome integrity. We show here that cellular defects in dermal fibroblasts from affected individuals are complemented by the expression of wild-type TONSL. In addition, in vitro cell-based as-says and in silico analyses of TONSL structure support the pathogenicity of those TONSL variants. Intriguingly, a knock-in (KI) Tonsl mouse model leads to embryonic lethality, implying the physiological importance of TONSL. Overall, these findings indicate that genetic variants resulting in reduced function of TONSL cause SPONASTRIME dysplasia and highlight the importance of TONSL in embryonic development and postnatal growth.Peer reviewe