Type 1 Hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1

Highlights • Mutations in GPIHBP1 are rare cause of type I hyperlipoproteinemia (T1HLP). • Homozygous 54,623 bp deletion of Chromosome 8 containing GPIHBP1 caused T1HLP. • Visceral xanthomas and pancreatic atrophy can be rare clinical features of T1HLP • Disease severity is more with nonfunctional v...

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Bibliographic Details
Published in:Journal of clinical lipidology 2016-07, Vol.10 (4), p.1035-1039.e2
Main Authors: Patni, Nivedita, MD, Brothers, Julie, MD, Xing, Chao, PhD, Garg, Abhimanyu, MD
Format: Article
Language:English
Subjects:
Adolescent
Base Sequence
Cardiovascular
Chylomicronemia
Gene Deletion
Genotype
GPIHBP1
Homozygote
Humans
Hyperlipoproteinemia Type I - genetics
Male
Receptors, Lipoprotein - deficiency
Receptors, Lipoprotein - genetics
Type 1 hyperlipoproteinemia
Whole-exome sequencing
Xanthomas
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Description
Summary:Highlights • Mutations in GPIHBP1 are rare cause of type I hyperlipoproteinemia (T1HLP). • Homozygous 54,623 bp deletion of Chromosome 8 containing GPIHBP1 caused T1HLP. • Visceral xanthomas and pancreatic atrophy can be rare clinical features of T1HLP • Disease severity is more with nonfunctional versus dysfunctional GPIHBP1 protein.
ISSN:1933-2874
1876-4789
DOI:10.1016/j.jacl.2016.04.001