ArticleJournal of medical genetics2006
Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Neurodevelopmental disorder with dystonia due to SOX6 mutations.Molecular genetics & genomic medicine · 2022Article
- De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.American journal of human genetics · 2020Article
- A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.BMC medical genetics · 2020Article
- Molecular patterning of the embryonic cranial mesenchyme revealed by genome-wide transcriptional profiling.Developmental biology · 2019Article
- SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations.Trends in genetics : TIG · 2019Review
- Genetic Causes of Craniosynostosis: An Update.Molecular syndromology · 2019Review
- Roles and regulation of SOX transcription factors in skeletogenesis.Current topics in developmental biology · 2019Review
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Immediate and long-term transcriptional response of hind muscle tissue to transient variation of incubation temperature in broilers.BMC genomics · 2016Article
- Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Plastic and reconstructive surgery · 2016Article
- Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Current genetic medicine reports · 2014Article
- FAD104, a regulatory factor of adipogenesis, acts as a novel regulator of calvarial bone formation.The Journal of biological chemistry · 2013Article
- Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Review
- Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders.Neural plasticity · 2011Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Craniosynostosis is a congenital developmental disorder involving premature fusion of cranial sutures, which results in an abnormal shape of the skull. Significant progress in understanding the molecular basis of this phenotype has been made for a small number of syndromic craniosynostosis forms. Nevertheless, in the majority of the approximately 100 craniosynostosis syndromes and in non-syndromic craniosynostosis the underlying gene defects and pathomechanisms are unknown. Here we report on a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. Three dimensional cranial computer tomography showed fusion of the lambdoid sutures and distal part of the sagittal suture with a gaping anterior fontanelle. Mutations in the genes for FGFR2 and FGFR3 were excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes. SOX6 mutation screening of another 104 craniosynostosis patients revealed one missense mutation leading to the exchange of a highly conserved amino acid (p.D68N) in a single patient and his reportedly healthy mother. The breakpoint on chromosome 9 is located in a region without any known or predicted genes but, interestingly, disrupts patches of evolutionarily highly conserved non-genic sequences and may thus led to dysregulation of flanking genes on chromosome 9 or 11 involved in skull vault development. The present case is one of the very rare reports of an apparently balanced translocation in a patient with syndromic craniosynostosis, and reveals novel candidate genes for craniosynostoses and cranial suture formation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.