ArticleAmerican journal of medical genetics. Part A2008
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 64 citations in OpenAlex.
- Review
- Vacuolar HJournal of cellular physiology · 2025Article
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants inGlobal medical genetics · 2024Review
- Two novel variations inFrontiers in genetics · 2023Article
- Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins withCase reports in genetics · 2023Article
- The Intimate Connection Between Lipids and Hedgehog Signaling.Frontiers in cell and developmental biology · 2022Review
- Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus.Journal of translational medicine · 2021Article
- A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.Journal of human genetics · 2021Article
- Case Report: A Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.Human molecular genetics · 2020Article
- Article
- Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.Frontiers in pediatrics · 2020Article
- Prenatal evaluation of the Sakoda complex.Pediatric radiology · 2019Article
- Sequence variants associating with urinary biomarkers.Human molecular genetics · 2019Article
- Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration.Investigative ophthalmology & visual science · 2019Article
- Precise Short Sequence Insertion in Zebrafish Using a CRISPR/Cas9 Approach to Generate a Constitutively Soluble Lrp2 Protein.Frontiers in cell and developmental biology · 2019Article
- Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?European journal of human genetics : EJHG · 2018Article
- Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblings.Case reports in obstetrics and gynecology · 2018Article
- Proximal Tubular Expression Patterns of Megalin and Cubilin in Proteinuric Nephropathies.Kidney international reports · 2017Article
- Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.International journal of obesity (2005) · 2016Article
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
Abstract
Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild-type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders.
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