ArticleMolecular vision2007
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
Article in Molecular vision, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.Molecular genetics & genomic medicine · 2025Article
- Homozygosity for a NovelInternational journal of molecular sciences · 2022Article
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Case report: Disease phenotype associated with simultaneous biallelic mutations inFrontiers in genetics · 2022Article
- An Overview of the Genetics ofGenes · 2021Review
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient withInternational journal of molecular sciences · 2021Article
- Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.Frontiers in genetics · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant inMolecular vision · 2018Article
- Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.International journal of molecular medicine · 2015Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.American journal of medical genetics. Part A · 2010Article
- Retinitis pigmentosa and allied conditions today: a paradigm of translational research.Genome medicine · 2010Article
- Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.The British journal of ophthalmology · 2009Review
- Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.The British journal of ophthalmology · 2009Article
- Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.European journal of human genetics : EJHG · 2009Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeStargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13.
methodsTo describe a form of non-mendelian inheritance in a patient with STGD identified through the course of a conventional mutational screening performed on 77 STGD families. DNA from the patient and relatives was analyzed for variants in all 50 exons of the ABCA4 gene by screening on the ABCR400 microarray; results were confirmed by direct sequencing. Haplotype analyses, standard and high-resolution (HR) karyotypes, and multiplex ligation-dependent probe amplification (MLPA) were also performed.
resultsA patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Haplotype analysis suggested that no maternal ABCA4 allele was transmitted to the patient. Microsatellite markers spanning the entire chromosome 1 identified a homozygous region of at least 4.4 Mb, involving the ABCA4 gene. The cytogenetic study revealed normal female karyotype. Further evaluation with MLPA showed the patient had a normal dosage for both copies of the ABCA4 gene, thus suggesting partial paternal isodisomy but not a maternal microdeletion.
conclusionsWe report that recessive STGD can rarely be inherited from only one unaffected carrier parent in a non-mendelian manner. This study also demonstrates that genomic alterations contribute to only a small fraction of disease-associated alleles for ABCA4.
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17277736PMC2553007W1600860952What OpenQuestion holds
Registered trials
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