Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is one of the most commonly inherited autosomal dominant diseases. It affects roughly one in every 500 people, and leads to premature coronary heart disease, but can be well treated with lipid lowering agents such as statins. It is recommended that DNA based tests should be used to cascade-test relatives of FH probands, and mutations in three genes are known to cause FH (LDLR, APOB,PCSK9). However, since there are over 1,200 gene defects reported in FH patients, mutation screening is labour- and time- consuming.

The increasing speed of DNA sequencing and computer processing, coupled with the concomitant fall in cost now allows us to study human genes to an order of magnitude greater depth than before. We therefore assessed the utility of next generation sequencing in FH diagnosis and found the method to be more sensitive than previously used assays, however functional assays to confirm the impact of novel mutations is currently required. (By Marta Futema, http://jmg.bmj.com/content/49/10/644 )

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