ArticleAmerican journal of human genetics1996
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 54 citations in OpenAlex.
- Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.Genome research · 2026Article
- LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis.Scientific reports · 2025Article
- Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids in health and disease · 2023Article
- Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.Molecular cytogenetics · 2022Article
- Genetics, Dyslipidemia, and Cardiovascular Disease: New Insights.Current cardiology reports · 2019Review
- Creation of Apolipoprotein C-II (ApoC-II) Mutant Mice and Correction of Their Hypertriglyceridemia with an ApoC-II Mimetic Peptide.The Journal of pharmacology and experimental therapeutics · 2016Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- Leu452His mutation in lipoprotein lipase gene transfer associated with hypertriglyceridemia in mice in vivo.PloS one · 2013Article
- Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.American journal of human genetics · 2008Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.American journal of human genetics · 1998Article
- Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.American journal of human genetics · 1997Article
- Assessment of French patients with LPL deficiency for French Canadian mutations.Journal of medical genetics · 1997Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uniparental disomy (UPD)-the inheritance of two homologous chromosomes from a single parent-may be unmasked in humans by the unexpected appearance of developmental abnormalities, genetic disorders resulting from genomic imprinting, or recessive traits. Here we report a female patient with familial chylomicronemia resulting from complete lipoprotein-lipase (LPL) deficiency due to homozygosity for a frameshift mutation in exon 2 of the LPL gene. She was the normal term product of an unremarkable pregnancy and had shown normal development until her current age of 5.5 years. The father (age 33 years) and the mother (age 24 years) were unrelated and healthy, with no family history of stillbirths or malformations. The father was a heterozygous carrier of the mutation, whereas no mutation in the LPL gene was detected in the mother. Southern blotting did not reveal any LPL gene rearrangement in the proband or her parents. The proband was homozygous for 17 informative markers spanning both arms of chromosome 8 and specifically for the haplotype containing the paternally derived LPL gene. This shows that homozygosity for the defective mutation in the LPL gene resulted from a complete paternal isodisomy for chromosome 8. This is the first report of UPD for chromosome 8 unmasked by LPL deficiency and suggests that normal development can occur with two paternally derived copies of human chromosome 8.
Indexed as
Identifiers
8755931PMC1914726W2203786502What OpenQuestion holds
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