Open Access Research article

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Catalina Dussaillant1, Valentina Serrano1, Alberto Maiz1, Susana Eyheramendy2, Luis Rodrigo Cataldo1, Matías Chavez2, Susan V Smalley1, Marcela Fuentes1, Attilio Rigotti1, Lorena Rubio1, Carlos F Lagos3, José Alfredo Martinez4 and José Luis Santos1*

Author Affiliations

1 Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Alameda 340, Santiago, Chile

2 Department of Statistics, School of Mathematics, Pontificia Universidad Católica de Chile, Santiago, Chile

3 Department of Pharmacy, School of Chemistry, Pontifica Universidad Católica de Chile, Santiago, Chile

4 Department of Nutrition and Food Sciences, Physiology and Toxicology, University of Navarra, Pamplona, Spain

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BMC Medical Genetics 2012, 13:106  doi:10.1186/1471-2350-13-106

Published: 15 November 2012

Additional files

Additional file 1:

Supplemental data. APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a consanguineous family. Supplemental tables: Table S1. Genes related to hypertriglyceridemia. Table S2. Features of the human Cyto SNP-12 panel (as reported by Illumina webcite). Table S3. Regions showing excess of homozygosity in the two affected sisters (family members 11 and 12) and more than 20% of heterozygosis in a healthy sister (subject 14). Table S4. Main clinical features of the 97X homozygous cases reported of Q97X mutation in APOA5. Supplemental figures: Figure S1. Pedigree chart of the complete family. Figure S2. PCR-RFLP analysis of S19W and -1131 T>C polymorphisms of the APOA5 gene in the complete consanguineous Chilean family with HTG and APOA5 mutation. Figure S3. Single nucleotide substitution in exon 4 (c.289 C>T), which converts the glutamine codon at position 97 into a termination codon (Q97X) in APOA5 gene. Figure S4. Model of Apo A-V protein structure and critical domains.

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