Clinical case: The development of heterozygous familial hypercholesterolemia in a patient with rs879255191 in LDLR gene

Shakhtshneider, E.; Ivanoshchuk, D.; Makarenkova, K.; Орлов, П. С.; Тимощенко, О. В.; Бажан, С С; Воевода, М. И.

doi:10.1016/j.atherosclerosis.2018.06.543

Cited by 1 publication

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“…The rs879255191 variant in the regulatory region of LDLR has previously been described by us in proband P24 with familial hypercholesterolemia and in his two children (patients P25 and P26) with hyperlipidemia (7 and 8 years old) [35,36]. Variant c.2389 + 5G > A is located in highly conserved dinucleotide AG at the splice donor site of intron 16 of LDLR.…”

Section: Ldlrmentioning

confidence: 76%

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

Shakhtshneider

Ivanoshchuk

Тимощенко

et al. 2021

JPM

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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.

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Section: Ldlrmentioning

confidence: 76%