ArticleFrontiers in molecular biosciences2026
Genetic screening and response to drug therapy in familial hypercholesterolemia.
Article in Frontiers in molecular biosciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
Objectives: Familial hypercholesterolemia (FH) is an autosomal genetic disorder, which is significantly underdiagnosed. Here, we aimed to identify the genetic causes of a FH family and clarify the clinical diagnosis of the patient and then provide personalized treatment plan. Materials and Methods: We recruited a three-generation Chinese family with a history of FH and conducted genetic testing by Whole exome sequencing and Sanger sequencing. The potential effect of mutation identified was predicted using various software such as SIFT, Polyphen-2, Mutation Taster, RNAfold, AlphaFold and the conservation was tested using multiple sequence alignments by ClustalX. The pathogenicity of the identified mutation was evaluated according to the 2015 ACMG/AMP Standards and Guidelines. Results: A frame shift insertion mutation (c.2517_2518insCA, p. C839fs) in Conclusion: Here, we identified a novel mutation in
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