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ObjectiveThis study aims to explore the association between different genotypes of WT1 gene variations and the phenotypes of Denys-Drash syndrome (DDS) and Frasier syndrome (FS).MethodsThrough searching and summarizing the case information of WT1 gene variations recorded in NCBI PubMed and CNKI databases from January 1, 1991 to October 31, 2023, we analyzed the association between variation types, occurrence locations, and phenotypes such as progressive renal function impairment, genitourinary developmental abnormalities, nephroblastoma, and gonadal tumors between DDS and FS.ResultsA total of 128 articles, including 304 subjects, were included in this study, and 86 pathogenic variations of the WT1 gene were detected.The distribution characteristics of these variations were as follows: the most common occurrence was in exon 9(24/86, 27.9%) and exon 8 (23/86, 26.7%); the most common variation type was missense mutation(51/86, 59.3%), followed by splice site mutation (13/86, 15.1%).The disease types caused by WT1 gene variations were as follows: DDS had the highest number of cases (174/304, 57.2%), followed by FS (83/304, 27.3%); DDS was mainly caused by missense mutations on exon 9 and exon 8 (143/174, 82.2%), while FS was mainly caused by splice site mutations on intron 9 (76/83, 91.6%).ConclusionsThe missense variants in exon 9 and exon 8 on the WT1 gene mainly resulted in DDS, while the splice variants in intron 9 mainly resulted in FS. Infants and children with progressive renal injury should undergo a comprehensive evaluation of the genitourinary system, and early genetic diagnosis should be established to improve prognosis.

Aim: Intraspecific genetic variation is a key component of biodiversity, with higher diversity indicating greater resilience and population substructuring suggesting unique evolutionary histories. Comparative approaches, in which intraspecific genetic variation is assessed across multiple species, are powerful tools to identify evolutionary hotspots, but are still rarely applied at spatial scales relevant to conservation planning. Here, we use comparative phylogeography to understand patterns and potential drivers of genetic variation within a biodiversity and ocean warming hotspot. Location: The South African coastline, Indian/Atlantic Oceans. Methods: A literature search was conducted to obtain mitochondrial DNA cytochrome oxidase c subunit I and cytochrome b sequence data for 17 marine fish and invertebrate species. From these data, we compared averages of haplotype and nucleotide diversity, and within‐region ΦST between four biogeographic provinces in the region. Mixed linear models tested whether environmental variability, habitat preference, or geographic location significantly influence genetic variation. Results: Average diversity values differed between haplotype and nucleotide diversity, but both broadly displayed highest diversity levels within the South‐West bioregion, which is also a region of high levels of within‐region ΦST. Range in sea surface temperatures (SSTs) was the only significant fixed‐effect term in the haplotype diversity mixed linear models. Mean SST, stability in SSTs since the Mid‐Holocene and position within the species' geographic distribution all had no significant effect on genetic variation. Main conclusions: Along this coastline characterized by high environmental heterogeneity, we find that variation in temperature is a prominent source of intraspecific variation. Genetic diversity differs between bioregions, but does not display higher levels within the core of each species' range when assessed across multiple species. With elevated levels of genetic diversity, the South‐West region of the South African coast is highlighted as a conservation priority area, representing both high genetic diversity and differentiation across taxa. [ABSTRACT FROM AUTHOR]

Aim: To assess the pattern of biotic regions (BR) and their boundaries, to detect chorotypes and to relate these patterns to key environmental factors. Location: Eastern Atlantic Ocean. Time period: Recent. Taxon studied: Bivalvia. Methods: Distributions were scored for 595 species. Operational geographical units are classified hierarchically using Baroni‐Urbani & Buser similarity index, clusters were assessed for statistical significance with the 'RMacoqui 1.0' software using G tests of independence, and chorotypes were inferred likewise from similarity between species distributions. Results: Three strong biotic boundaries delimit four BR: (1) European Atlantic and Mediterranean; (2) West African, from western Sahara to southern Angola; (3) Baia dos Tigres/Namibia; and (4) Saint Helena/Ascension. The West African BR is subdivided by two weak boundaries into three subordinate BR: the tropical region proper, the north‐western African transition zone and the cluster (southern Angola/São Tomé/Cape Verde Islands). Of the 429 species present in West Africa, 261 (60.7%) are endemic, and 19 genera (7.2%) are endemic. Sixteen chorotypes were identified; the European BR is correlated with chorotypes C5 (149 species mostly European and Mediterranean) and C3 (38 species mostly in northern Europe), whereas the West African BR is mainly characterized by chorotype C6 (221 species). Some discontinuous distribution patterns of tropical West African species were identified as chorotypes, but subordinate to chorotype C6. The West African BR is mainly characterized by sea surface temperature and chlorophyll; characterization without the islands also involved the extensive sandy coast. The north‐western African transition region is characterized by an arid climate and few rivers and influenced by seasonal upwelling. The cluster of southern Angola, Sao Tomé and Cape Verdes contrasts with the remainder of West Africa in having a predominantly rocky shore. Main conclusions: The present analyses provide an objective regionalization based on species occurrences, which supports the traditional recognition of West Africa as a major biotic region with a high level of endemism. Attention is called on that the unique endemic component is insufficiently represented in current marine protected areas. [ABSTRACT FROM AUTHOR]