Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Authors:
Elena G Bochukova
Elena G Bochukova
University of Cambridge Metabolic Research Laboratories
Sahan V Rannan-Eliya
Sahan V Rannan-Eliya
Weatherall Institute of Molecular Medicine
United Kingdom
Steven A Wall
Steven A Wall
Oxford University Hospitals NHS Trust
Oxford | United Kingdom
Lina Ramos
Lina Ramos
John Radcliffe Hospital
United Kingdom

Am J Med Genet A 2007 Aug;143A(16):1941-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled refinement of information on diagnosis, recurrence risk, prognosis for mental development, and surgical planning. However, phenotypic variability can present a significant challenge to the clinical interpretation of molecular genetic tests. In particular, the difficulty of analyzing the complex interaction of genetic background and prenatal environment in determining clinical features, limits the value of identifying low penetrance mutations.

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August 2007
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