Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

ConclusionThe p.Q136* variant in LDLRAP1 is yet another founder mutation in Lebanon and coupled with the LDLR p.C681* variant explains all the genetic causes of FH in Lebanon.

Familial hypercholesterolemia in Lebanon is more frequent than other parts of the world because of high rates of consanguineous marriages. We hereby report that the p.Q136* LDLRAP1 variant is the second “Lebanese Allele” in our country. In addition, we report the first family with both LDLR and LDLRAP1 variants with different phenotypes between family members unexplained by their corresponding genotypes.

Source: Molecular Genetics & Genomic Medicine - January 1, 2016 Category: Genetics & Stem Cells Authors: Akl C. Fahed, Ruby Khalaf, Rony Salloum, Rabih R. Andary, Raya Safa, Inaam El‐Rassy, Elie Moubarak, Sami T. Azar, Fadi F. Bitar, Georges Nemer Tags: Original Article Source Type: research