The genetic background of craniosynostosis syndromes.
Craniosynostosis syndromes are developmental disorders that cause an abnormal shape of the skull due to the premature fusion of cranial sutures. Enormous progress has been made recently in understanding the genetic background of these disorders and a classification of syndromes on a genetic basis is beginning to emerge. Members of at least three gene families that play an important role in vertebrate development are associated with different craniosynostosis syndromes. Here we review the genetic aspects of this fast-moving field.
Heutink
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Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
Vermeij-Keers
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C
Oostra
B A
BA
D000168:Acrocephalosyndactylia / Q000235:genetics; D017209:Apoptosis / Q000235:genetics; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D002879:Chromosomes, Human, Pair 10; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D003394:Craniofacial Dysostosis / Q000235:genetics; D003398:Craniosynostoses / Q000145:classification / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D006801:Humans; D015513:Oncogene Proteins / Q000235:genetics; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics; D000071676:Zinc Finger Protein GLI1; D016335:Zinc Fingers / Q000235:genetics
D015513:Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; D015534:Trans-Activators; D014157:Transcription Factors; D000071676:Zinc Finger Protein GLI1