[HTML][HTML] Homozygosity for a partial deletion of apoprotein AV signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
Deficiency of apoprotein AV (apoA-V) can cause hypertriglyceridemia. In an 11 months old
boy presenting with a severe hypertriglyceridemia, a formerly unknown 24 nucleotide
deletion in exon 2 of the APOA5 gene was detected. The homozygous mutation results in an
eight amino acid loss in the signal peptide sequence (c. 16_39del; p. Ala6_Ala13del).
Screening of control persons proved that this deletion is a rare mutation.
Hypertriglyceridemia in the patient was only found at the time when he was breast fed, while …
boy presenting with a severe hypertriglyceridemia, a formerly unknown 24 nucleotide
deletion in exon 2 of the APOA5 gene was detected. The homozygous mutation results in an
eight amino acid loss in the signal peptide sequence (c. 16_39del; p. Ala6_Ala13del).
Screening of control persons proved that this deletion is a rare mutation.
Hypertriglyceridemia in the patient was only found at the time when he was breast fed, while …