ArticleScientific reports2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- MAGEL2-related disorders: A study and case series.Clinical genetics · 2019Pooled it
- Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.Journal of clinical laboratory analysis · 2026Article
- Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient.The application of clinical genetics · 2026Article
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.Clinical case reports · 2023Article
- Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.Journal of medical genetics · 2023Article
- Application of Next Generation Sequencing in Laboratory Medicine.Annals of laboratory medicine · 2021Review
- Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.Medicine · 2020Article
- Emerging roles of the MAGE protein family in stress response pathways.The Journal of biological chemistry · 2020Review
- Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.Orphanet journal of rare diseases · 2020Article
- A Recurrent Variant inMolecular syndromology · 2020Article
- DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.European journal of human genetics : EJHG · 2020Article
- eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.Human mutation · 2019Article
- Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis.Molecular therapy. Methods & clinical development · 2019Review
- Article
- Schaaf-Yang syndrome overview: Report of 78 individuals.American journal of medical genetics. Part A · 2018Article
- A Novel Mutation ofInternational journal of endocrinology and metabolism · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.Human molecular genetics · 2017Article
- Cellular and disease functions of the Prader-Willi Syndrome geneThe Biochemical journal · 2017Review
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome. Whole exome and genome sequencing of a 19-year-old girl (P7), initially diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene. MAGEL2 is an imprinted, maternally silenced, gene located at 15q11-13, within the Prader-Willi region. Patient P7 carried the mutation in the paternal chromosome. Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. Patient P7 bears resemblances with SHFYNG cases but has other findings not described in this syndrome and common in OTCS. We sequenced MAGEL2 in nine additional OTCS patients and no mutations were found. This study provides the first clear molecular genetic basis for an OTCS case, indicates that there is overlap between OTCS and SHFYNG syndromes, and confirms that OTCS is genetically heterogeneous. Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as OTCS disease-causing genes.
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