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To date, few mutations are described to underlie highly-elevated HDLc levels in families. Here we sequenced the coding regions and adjacent sequence of the  LIPG ,  CETP , and  GALNT2  genes in 171 unrelated Dutch Caucasian probands with HDLc≥90th percentile and analyzed segregation of mutations with lipid phenotypes in family members. In these probands, mutations were most frequent in  LIPG  (12.9%) followed by  GALNT2  (2.3%) and  CETP  (0.6%). A total of 6 of 10 mutations in these three genes were novel (60.0%), and mutations segregated with elevated HDLc in families. Interestingly, the  LIPG  mutations N396S and R476W, which usually result in elevated HDLc, were unexpectedly found in 6 probands with low HDLc (i.e., ≤10th percentile). However, 5 of these probands also carried mutations in  ABCA1 ,  LCAT , or  LPL . Finally, no  CETP  and  GALNT2  mutations were found in 136 unrelated probands with low HDLc. Taken together, we show that rare coding and splicing mutations in  LIPG ,  CETP , and  GALNT2  are enriched in persons with hyperalphalipoproteinemia and segregate with elevated HDLc in families. Moreover,  LIPG  mutations do not overcome low HDLc in individuals with  ABCA1  and possibly  LCAT  and  LPL  mutations, indicating that  LIPG  affects HDLc levels downstream of these proteins.

Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol