Identification of two novel LDLR variants by Next Generation Sequencing.

CONCLUSIONS: This study showed that an effective NGS-based pipeline led to a definitive diagnosis in two FH families, allowing to plan their therapeutic treatment. Although the functional consequence of the two LDLR variants needs to be assessed in vitro, the in silico analysis and high preservation of the two amino acid positions observed in the LDLR protein, across different animal species, suggest that both variants are deleterious. PMID: 32242544 [PubMed - in process]
Source: Annali dell Istituto Superiore di Sanita - Category: General Medicine Tags: Ann Ist Super Sanita Source Type: research