ArticleEuropean journal of human genetics : EJHG2010
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 74 citations in OpenAlex.
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Human genetics · 2015Trial
- Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report.Frontiers in genetics · 2025Article
- NEXMIF overexpression is associated with autism-like behaviors and alterations in dendritic arborization and spine formation in mice.Frontiers in neuroscience · 2025Article
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- Gene therapy using human FMRP isoforms driven by the humanMolecular therapy. Methods & clinical development · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.Nature communications · 2021Article
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants inGenes · 2021Article
- Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC medical genomics · 2018Article
- FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype.Human gene therapy · 2016Article
- Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.Neurogenetics · 2012Article
- De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.European journal of human genetics : EJHG · 2012Article
- Fragile X and X-linked intellectual disability: four decades of discovery.American journal of human genetics · 2012Review
- Long time no see: the Type and Contre-type concept.European journal of human genetics : EJHG · 2010Article
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12 authors at 5 institutions in 1 country.
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Abstract
X-linked mental retardation is a common disorder that accounts for 5-10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the other hand, partial duplication of the long arm of the X chromosome is uncommon. It leads to functional disomy of the corresponding genes and has been reported in several cases of mental retardation in males. In this study, we report on the clinical and genetic characterization of a new X-linked mental retardation syndrome characterized by short stature, hypogonadism and facial dysmorphism, and show that this syndrome is caused by a small Xq27.3q28 interstitial duplication encompassing the FMR1 gene. This family broadens the phenotypic spectrum of FMR1 anomalies in an unexpected manner, and we suggest that this condition may represent the fragile X syndrome "contre-type".
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