New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Sandy Elbitar, Delia Susan-Resiga, Youmna Ghaleb, Petra El Khoury, Gina Peloso, Nathan Stitziel, Jean-Pierre Rabès, Valérie Carreau, Josée Hamelin, Ali Ben-Djoudi-Ouadda, Eric Bruckert, Catherine Boileau, Nabil G. Seidah, Mathilde Varret, Marianne Abifadel

ABSTRACT

Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated LDL-C levels leading to coronary heart disease. Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE. Our aim was to identify new mutations in known genes, or in new genes implicated in ADH. Thirteen French families with ADH were recruited and studied by exome sequencing after exclusion, in their probands, of mutations in the LDLR, PCSK9 and APOE genes and fragments of exons 26 and 29 of APOB gene. We identified in one family a p.Arg50Gln mutation in the APOB gene, which occurs in a region not usually associated with ADH. Segregation and in-silico analysis suggested that this mutation is disease causing in the family. We identified in another family with the p.Ala3396Thr mutation of APOB, one patient with a severe phenotype carrying also a mutation in PCSK9: p.Arg96Cys. This is the first compound heterozygote reported with a mutation in APOB and PCSK9. Functional studies proved that the p.Arg96Cys mutation leads to increased LDL receptor degradation. This work shows that Next-Generation Sequencing (exome, genome or targeted sequencing) are powerful tools to find new mutations and identify compound heterozygotes, which will lead to better diagnosis and treatment of ADH. More... »

PAGES

1943

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-018-20281-9

DOI

http://dx.doi.org/10.1038/s41598-018-20281-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100658031

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29386597


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