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Article Abstract
Background: The deeper understanding of the complex hereditary basis of familial hypercholesterolemia (FH) has raised the rationale of genetic testing, which has been underutilized in clinical practice.
Objectives: The present study aimed to explore the variant spectrum of FH in an expanding manner and compare its diagnostic performance.
Methods: A total of 169 Chinese individuals (124 index cases and 45 relatives) with clinical definite/probable FH were consecutively enrolled. Next-generation sequencing was performed for genetic analysis of 9 genes associated with hypercholesterolemia (major genes: and minor genes: and ) including the evaluations of small-scale variants and large-scale copy number variants (CNVs).
Results: Among the 169 clinical FH patients included, 98 (58.0%) were men. A total of 85 (68.5%) index cases carried FH-associated variants. The proportion of FH caused by small-scale variants in , and genes was 62.1% and then increased by 6.5% when other genes and CNVs were further included. Furthermore, the variants in , , and genes occupied 75% of all FH-associated variants. Of note, there were 8 non- CNVs detected in the present study.
Conclusions: , , and genes should be tested in the initial genetic screening, although variants in minor genes also could explain phenotypic FH, suggesting that an expanding genetic testing may be considered to further explain phenotypic FH.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627923 | PMC |
| http://dx.doi.org/10.1016/j.jacasi.2021.04.001 | DOI Listing |
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