What is the clinical evidence from this study?

Study design: Case Report. Population: Familial HDL deficiency (n=3). Intervention: APOA1 gene mutation (c.546_547delGC). Primary outcome: Genetic and phenotypic characterization.

September 18, 2015Journal of clinical lipidologyOpen Access

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

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Key result

A novel frameshift mutation in the APOA1 gene (c.546_547delGC) causes familial HDL deficiency, with phenotypic expression worsened by metabolic syndrome and potentially mitigated by the beta-thalassemic trait.

Population

A kindred with high-density lipoprotein deficiency. The proband is an overweight boy with…

Design

Case_series

Authors

LPLivia PisciottaMartin University CVCecilia VitaliUniversity of Pennsylvania EFElda FavariUniversity of Parma

Discussion

Member takes

Implication

Comorbidities may modify APOA1-related HDL deficiency expression; leaves open modifier effects for validation in larger cohorts.

Study Design

Type

Case Report (n=3)

Structured PICO

Population

A kindred of 3 individuals (an overweight boy, his mother, and maternal grandfather) with familial HDL deficiency.

Outcome

Identification of genetic mutations and functional analysis of HDL subpopulations and cholesterol efflux capacitysurrogate

A novel APOA1 frameshift mutation causes familial HDL deficiency, with phenotypic expression modulated by comorbidities such as metabolic syndrome and beta-thalassemia trait.

Cite This Study

Pisciotta et al. (2015) conducted a case report in Familial HDL deficiency (n=3). APOA1 gene mutation (c.546_547delGC) was evaluated on Genetic and phenotypic characterization. A novel frameshift mutation in the APOA1 gene (c.546_547delGC) causes familial HDL deficiency, with phenotypic expression worsened by metabolic syndrome and potentially mitigated by the beta-thalassemic trait.

synapsesocial.com/papers/6a62b1ee0ee61e9ea5c3cdc3 https://doi.org/10.1016/j.jacl.2015.09.001

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A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider