February 1, 2000Clinical Genetics

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr₃₀₂>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

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Population

An Italian family from Sardinia, including a young boy with primary hyperchylomicronemia, pancreatitis, and…

Design

Case_series

Authors

SBStefano BertoliniUniversity of Genoa MSMl SimoneUniversity of Modena and Reggio Emilia GPGiovanni Mario PesUniversity of Sassari

Discussion

Member takes

Implication

Tyr302>Term may underlie LPL deficiency in Sardinians; extends known variants but remains hypothesis-generating pending larger studies.

Structured PICO

Population

An Italian family from Sardinia, including a young boy (proband) with primary hyperchylomicronemia, pancreatitis, and complete LPL deficiency, and his family members.

Intervention

Genetic analysis of the LPL gene using single strand conformation polymorphism (SSCP) and direct sequencing.

Outcome

Identification of the molecular defect in the LPL gene.

Identified the first LPL gene mutation (Tyr302>Term) in Sardinians, which causes LPL deficiency and a dyslipidemic phenotype.

Cite This Study

Bertolini et al. (2000) studied this question.

synapsesocial.com/papers/6a706378660549caf2c4f6bc https://doi.org/10.1034/j.1399-0004.2000.570209.x

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Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr₃₀₂>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr₃₀₂>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider