ArticleAmerican journal of medical genetics. Part A2017
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.Human mutation · 2024Article
- Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.Journal of autism and developmental disorders · 2023Article
- Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.Genes · 2022Article
- Delineation of dual molecular diagnosis in patients with skeletal deformity.Orphanet journal of rare diseases · 2022Article
- Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.American journal of medical genetics. Part A · 2022Article
- Review
- Genome sequencing identifies three molecular diagnoses including a mosaic variant in theCold Spring Harbor molecular case studies · 2021Article
- Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.Molecular genetics & genomic medicine · 2021Article
- Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome.The Journal of clinical endocrinology and metabolism · 2020Observational
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Genome medicine · 2019Article
- A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Genome sequencing and implications for rare disorders.Orphanet journal of rare diseases · 2019Review
- Predicting disease-causing variant combinations.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.Genome medicine · 2019Article
- Insights into genetics, human biology and disease gleaned from family based genomic studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.American journal of medical genetics. Part A · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Phenotypic expansion illuminates multilocus pathogenic variation.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- 22q and two: 22q11.2 deletion syndrome and coexisting conditions.American journal of medical genetics. Part A · 2018Article
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22 authors.
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Abstract
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c.145+1G>A affecting a TCF4 canonical splicing site inherited from the mosaic mother. RNA studies showed that the variant abolished the donor splicing site, which was accompanied by activation of an alternative non-canonical splicing-site which then predicts a premature stop codon in the following exon. Clinical re-evaluation of the twins indicated that both variants are likely contributing to the more severe phenotypic presentation. Our data show that atypical clinical presentations may actually be the expression of blended clinical phenotypes arising from independent pathogenic events at two loci.
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