ArticleHuman mutation2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Article in Human mutation, 2016. 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, 26 citations in OpenAlex.
- 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
- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.BMC medical genomics · 2026Article
- TCF12-related bicoronal craniosynostosis complicated by a large middle fossa arachnoid cyst and developmental regression: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Functional analyses of splice site variants in TCF12.Human genomics · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.Molecular biology reports · 2024Article
- Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.Scientific reports · 2024Article
- Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion ofFrontiers in endocrinology · 2024Article
- Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.European journal of orthodontics · 2022Article
- TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.Human molecular genetics · 2020Article
- Deviating dental arch morphology in mild coronal craniosynostosis syndromes.Clinical oral investigations · 2019Article
- ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.American journal of medical genetics. Part A · 2019Article
- Structural Genome Variations Related to Craniosynostosis.Molecular syndromology · 2019Review
- Genetic Causes of Craniosynostosis: An Update.Molecular syndromology · 2019Review
- Syndromic Craniosynostosis: Complexities of Clinical Care.Molecular syndromology · 2019Review
- Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis.International journal of biological sciences · 2019Review
- Two novel variants in theThe application of clinical genetics · 2019Article
- Clinical genetics of craniosynostosis.Current opinion in pediatrics · 2017Review
- Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.European journal of human genetics : EJHG · 2017Article
- Lessons learned from the search for genes responsible for rare Mendelian disorders.Molecular genetics & genomic medicine · 2016Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole-genome sequencing was applied on the DNA of 18 index cases with coronal synostosis and their family members (43 samples in total). The data were analyzed using an autosomal-dominant disease model. Structural variant analysis reported intragenic exon deletions (of sizes 84.9, 8.6, and 5.4 kb) in TCF12 in three different families. The results were confirmed by deletion-specific PCR and dideoxy-sequence analysis. Separately, targeted sequencing of the TCF12 genomic region in a patient with coronal synostosis identified a tandem duplication of 11.3 kb. The pathogenic effect of this duplication was confirmed by cDNA analysis. These findings indicate the importance of screening for larger rearrangements in patients suspected to have TCF12-related craniosynostosis.
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