June 7, 2024Molecular Genetics and Metabolism ReportsOpen Access

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil

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Pathogenic and likely pathogenic germline variants occurred in 13% of severe hypertriglyceridemia cases, with LPL being the most frequently altered gene in the cohort.
Multi-gene panel testing of 212 patients with fasting triglycerides at or above 880 mg/dL identified 16 novel variants and one case of familial chylomicronemia syndrome.
Findings expand the known spectrum of triglyceride metabolism variants, supporting targeted genetic counseling in populations currently underrepresented in genomic databases.

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Implication

Cohort study reveals a 13% diagnostic yield and 16 novel variants in severe hypertriglyceridemia, highlighting the genetic spectrum of triglyceride metabolism in underrepresented populations.

Cite This Study

Mendes et al. (2024) studied this question.

synapsesocial.com/papers/68e65bb4b6db6435875ea36d https://doi.org/10.1016/j.ymgmr.2024.101100

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Implication

Cohort study reveals a 13% diagnostic yield and 16 novel variants in severe hypertriglyceridemia, highlighting the genetic spectrum of triglyceride metabolism in underrepresented populations.

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil

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Discussion

Implication

Cite This Study

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil

Key Points

Discussion

Implication

Cite This Study

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