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Heritable thoracic aortic aneurysms are complex conditions characterised by the dilation or rupture of the thoracic aorta, often occurring as an autosomal-dominant disorder associated with life-threatening complications. In this case report, we present a de novo variant, MFAP5 c.236_237insA (p.N79Kfs9), which is implicated in the development of inherited thoracic aortic aneurysm. The proband, a 15-year-old male, presented with recurrent cough, dull chest pain, chest distress, vomiting, and reduced activity tolerance, leading to the diagnosis of heritable thoracic aortic aneurysms. Whole-exome sequencing identified a novel heterozygous variant in MFAP5 (NM_003480, c.236_237insA, and p.N79Kfs9). MutationTester and PolyPhen-s predicted this variant to be damaging and disease-causing (probability = 1), while the SFIT score indicated protein damage (0.001). Structural analysis using the AlphaFold Protein structure database revealed that this mutation disrupted the N-linked glycosylation site, resulting in a frameshift, amino acid sequence alteration, and truncation of an essential protein site. To our knowledge, this is the first case report describing a young patient with heritable thoracic aortic aneurysm carrying the novel MFAP5 c.236_237insA (p.N79Kfs*9) variant. This variant represents the third identified mutation site associated with heritable thoracic aortic aneurysm. Given the high mortality and morbidity rates associated with thoracic aortic aneurysms, the prevention of severe and fatal complications is crucial in the clinical management of this condition. Our case highlights the importance of whole-exome sequencing and genetic screening in identifying potential pathogenic or likely pathogenic variants, particularly in early-onset patients with aortic dilation, to inform appropriate management strategies.
A well-preserved radiolarian fauna reported from the Changxing Formation in the Meishan D Section, Changxing, Zhejiang, China, mainly includes abundant Entactinia itsukaichiensis, Grandetortura nipponica, Copicyntra robustodentata, Lepingosphaera stauracanthus, and a few Entactinia meishanensis n. sp., Entactinia? sp., Entactinosphaera cimelia, Triaenosphaera sp., Tetragregnon sp., Paracopicyntra ziyunensis, Copicyntroides sp. cf. C. asteriformis, Copicyntroides sp., and Ishigum trifustis, with the conodont Neogondolella subcarinata Zone. One new species, Entactinia meishanensis, is described in this paper. This radiolarian fauna is characterized by low abundance and low diversity, and apparently occurred in a water depth of 150–200 m.
A delicate and well-preserved latest Permian radiolarian fauna was obtained from muddy siliceous rocks and siliceous mudstones in the Dongpan Section, southwest Guangxi, China. the specimens of family Albaillellidae in the fauna have been selected for taxonomic study in this paper. Two genera and 14 species belonging to this family are recognized and described, including three new species and one new subspecies, namely Neoalbaillella minuta, Albaillella flabellata, Albaillella fida, and Albaillella yaoi longa, respectively. This assemblage is correlated to the Neoalbaillella optima Assemblage Zone. Its biostratigraphic significance and the final extinction of Albaillellidae at the end of Late Permian are observed and discussed herein.
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