ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 3 of them syntheses that pooled it.
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19 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Pooled it
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.BMC medical genomics · 2026Article
- Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.European journal of human genetics : EJHG · 2025Article
- Functional analyses of splice site variants in TCF12.Human genomics · 2025Article
- Clinical interest of molecular study in cases of isolated midline craniosynostosis.European journal of human genetics : EJHG · 2023Article
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.Frontiers in molecular biosciences · 2022Article
- An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.Frontiers in genetics · 2022Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Nature communications · 2020Article
- TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.Human molecular genetics · 2020Article
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- GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis.International journal of molecular sciences · 2020Article
- Trio-Based Whole-Exome Sequencing Identifies aFrontiers in pediatrics · 2020Article
- ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.American journal of medical genetics. Part A · 2019Article
- Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.PloS one · 2019Article
- Two novel variants in theThe application of clinical genetics · 2019Article
Corrections and comments
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Authors and funding
39 authors at 17 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis.
methodsA 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. An additional 76 individuals were tested prospectively.
resultsPathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10.
conclusionThese findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre-Chotzen syndrome.
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