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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

ABSTRACT: The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjects with a familial-hypercholesterolemia phenotype). For patients without functionally significant substitutions in the above genes, multiplex ligation-dependent probe amplification was conducted to determine bigger mutations (deletions and/or duplications) in the LDLR promoter and exons. A clinically significant variant in some gene associated with familial hypercholesterolemia was identified in 47.5% of the subjects. Clinically significant variants in the LDLR gene were identified in 19 probands (73.1% of all variants identified in probands); in three probands (11.5%), pathogenic variants were found in the APOB gene; and in four probands (15.4%), rare, clinically significant variants were identified in genes LPL, SREBF1, APOC3, and ABCG5. In 12 (85.7%) of 14 children of the probands, clinically significant variants were detectable in genes associated with familial hypercholesterolemia. The use of clinical criteria, targeted sequencing, and multiplex ligation-dependent probe amplification makes it possible to identify carriers of rare clinically significant variants in a wide range of lipid metabolism genes and to investigate their influence on phenotypic manifestations of familial hypercholesterolemia.

SUBMITTER: Shakhtshneider E

PROVIDER: S-EPMC8624238 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Salamanders (Caudata) are one of the three modern groups of amphibians known from the Middle Jurassic. The early stages of evolution of these amphibians are still poorly known, especially for stem taxa of Jurassic age. A new small-sized stem salamander, Egoria malashichevi gen. et sp. nov., from the Middle Jurassic (Bathonian) Itat Formation of the Berezovsk Quarry locality in Western Siberia, Russia, is described on the basis of isolated vertebrae, including an atlas centrum and a fragmentary trunk vertebra centrum previously referred to an undescribed salamander taxon ("Berezovsk salamander A"). The new taxon is diagnosed by the following unique combination of vertebral characters: atlantal anterior cotyles with elliptical anterior outline, located at an angle of approximately 135-137 degrees to each other; wide posterior portion of the atlantal centrum; ossified portion of the intercotylar tubercle represented by dorsal and ventral lips; absence of a deep depression on the ventral surface of the atlantal centrum; absence of pronounced ventrolateral ridges on the atlas; absence of spinal nerve foramina; presence of a pitted texture on the ventral and lateral surfaces of the centra and lateral surfaces neural arch pedicels; presence of a short atlantal neural arch with its anterior border situated behind the level of the anterior cotyles; short trunk vertebrae; and upper transverse process (= diapophysis) larger than lower transverse process (= parapophysis) on the trunk vertebrae; notochordal canal opens in the upper half of the cotyle (= the lower portion of the centrum is more massive and less compact than the upper portion). The microanatomical organization of the atlas and trunk vertebrae is characterized by the presence of inner cancellous endochondral bone. The small body size (about 180-215 mm) of Egoria malashichevi gen. et sp. nov. indicates that that not all stem salamanders were large neotenic forms (up to 550-600 mm in Urupia and Marmorerpeton) and hints at a broader ecological role for stem salamanders.

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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

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