Key result
Recent research highlights the rapid detection of LDL receptor gene variants in familial hypercholesterolaemia, though some clinical patients lack detectable defects in the LDL receptor or apolipoprotein B.
Highlights the clinical variability of familial hypercholesterolaemia based on LDL receptor mutations and notes that some clinical FH cases lack detectable LDL receptor or apoB defects.
Genetic testing speeds FH variant detection yet misses cases; leaves open other genetic or modifier mechanisms in mutation-negative patients.
Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical practice. There is also evidence that some patients with clinical familial hypercholesterolaemia do not have detectable defects in the LDL receptor or apolipoprotein B.
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Anne K. Soutar (1998) conducted a review in Familial hypercholesterolaemia. LDL receptor gene variant detection and screening was evaluated. Recent research highlights the rapid detection of LDL receptor gene variants in familial hypercholesterolaemia, though some clinical patients lack detectable defects in the LDL receptor or apolipoprotein B.
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