Cited by 276Craniofacial Disorders and Treatmentsdental development and anomaliesBone Metabolism and Diseases

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A Genetic-Pathophysiological Framework for Craniosynostosis

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Twigg, Stephen R.F., Wilkie, Andrew O.M.·2015·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2015.07.006PMC PMC4564941

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Abstract

Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides a paradigm for investigating the interplay of genetic and environmental factors leading to malformation. Over the past 20 years molecular genetic techniques have provided a new approach to dissect the underlying causes; success has mostly come from investigation of clinical samples, and recent advances in high-throughput DNA sequencing have dramatically enhanced the study of the human as the preferred "model organism." In parallel, however, we need a pathogenetic classification to describe the pathways and processes that lead to cranial suture fusion. Given the prenatal onset of most craniosynostosis, investigation of mechanisms requires more conventional model organisms; principally the mouse, because of similarities in cranial suture development. We present a framework for classifying genetic causes of craniosynostosis based on current understanding of cranial suture biology and molecular and developmental pathogenesis. Of note, few pathologies result from complete loss of gene function. Instead, biochemical mechanisms involving haploinsufficiency, dominant gain-of-function and recessive hypomorphic mutations, and an unusual X-linked cellular interference process have all been implicated. Although few of the genes involved could have been predicted based on expression patterns alone (because the genes play much wider roles in embryonic development or cellular homeostasis), we argue that they fit into a limited number of functional modules active at different stages of cranial suture development. This provides a useful approach both when defining the potential role of new candidate genes in craniosynostosis and, potentially, for devising pharmacological approaches to therapy.

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Authors: Twigg, S. R. F., & Wilkie, A. O. M.
Affiliations: John Radcliffe Hospital (GB)
Corresponding author: Wilkie, Andrew O.M.
ORCID: Twigg, Stephen R.F.
Wilkie, Andrew O.M.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2015-09
Volume: 97
Issue: 3
Pages: 359-377
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2015.07.006
PMC: PMC4564941
OpenAlex: W1929611763
Cited by: 276
References: 156
Citations by year: 2026: 24 · 2025: 21 · 2024: 26 · 2023: 29 · 2022: 25 · 2021: 25 · 2020: 24 · 2019: 26 · 2018: 25 · 2017: 26 · 2016: 23 · 2015: 2
FWCI: 3.25
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 184 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Wellcome Trust (102731/Z/13/Z, 102731)
National Institute for Health and Care Research
Topics: Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
Health Sciences › Dentistry › General Dentistry › dental development and anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
Keywords: craniosynostosis, cranial sutures, premature suture fusion, genetic pathogenesis, haploinsufficiency, gain-of-function mutations, hypomorphic mutation, mouse model
MeSH terms: Animals, Brain, Cranial Sutures, Craniosynostoses, Humans, Models, Biological, Osteogenesis, Phenotype, Risk Factors, Cell Lineage, Mice

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A Genetic-Pathophysiological Framework for Craniosynostosis

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