Clinical dividends from the molecular genetic diagnosis of craniosynostosis
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 ∼25% of craniosynostosis, whilst several additio...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2006-12, Vol.140A (23), p.2631-2639 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Wilkie, Andrew O.M. Bochukova, Elena G. Hansen, Ruth M. S. Taylor, Indira B. Rannan-Eliya, Sahan V. Byren, Jo C. Wall, Steven A. Ramos, Lina Venâncio, Margarida Hurst, Jane A. O'Rourke, Anthony W. Williams, Louise J. Seller, Anneke Lester, Tracy |
| description | 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 ∼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. © 2006 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31366 |
| format | Article |
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S. ; Taylor, Indira B. ; Rannan-Eliya, Sahan V. ; Byren, Jo C. ; Wall, Steven A. ; Ramos, Lina ; Venâncio, Margarida ; Hurst, Jane A. ; O'Rourke, Anthony W. ; Williams, Louise J. ; Seller, Anneke ; Lester, Tracy</creator><creatorcontrib>Wilkie, Andrew O.M. ; Bochukova, Elena G. ; Hansen, Ruth M. S. ; Taylor, Indira B. ; Rannan-Eliya, Sahan V. ; Byren, Jo C. ; Wall, Steven A. ; Ramos, Lina ; Venâncio, Margarida ; Hurst, Jane A. ; O'Rourke, Anthony W. ; Williams, Louise J. ; Seller, Anneke ; Lester, Tracy</creatorcontrib><description>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 ∼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. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31366</identifier><identifier>PMID: 16838304</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Biological and medical sciences ; Child, Preschool ; Craniosynostoses - diagnosis ; Craniosynostoses - pathology ; Diseases of the osteoarticular system ; DNA Mutational Analysis ; Female ; FGFR2 ; Humans ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical genetics ; Medical sciences ; Middle Aged ; MLPA ; mosaicism ; Mutation ; Pedigree ; penetrance ; Prognosis ; Recurrence ; Risk Factors ; TWIST1</subject><ispartof>American journal of medical genetics. 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Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for ∼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. © 2006 Wiley‐Liss, Inc.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Craniosynostoses - diagnosis</subject><subject>Craniosynostoses - pathology</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>FGFR2</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>MLPA</subject><subject>mosaicism</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>penetrance</subject><subject>Prognosis</subject><subject>Recurrence</subject><subject>Risk Factors</subject><subject>TWIST1</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1PGzEQhi1U1KTQG2e0l3LqhrHH9jpHGkH4RkKtOFperzd1uh_U3rTk37NLAtza04xGzzuv9BByQGFCAdixWdaLiZkgRSl3yJgKwVKuED-87UyMyKcYlwAIIpMfyYhKhQqBj8nVrPKNt6ZKCv_HF64pYlKGtk66ny6p28rZVWVCsnCN67ztIbNo2uhj0paJDabxbVz3h2647ZPd0lTRfd7OPfLj7PT77Dy9vptfzE6uU8uRyVTlLrNgETCnAmyuODDMHRplrKS5lAUwKnPBQfApK7JSsQJKXgoUfYJy3CNHm7-Pof29crHTtY_WVZVpXLuKWiqqMsbEf0EGUyYZH8CvG9CGNsbgSv0YfG3CWlPQg2U9WNZGv1ju8cPt31Veu-Id3mrtgS9bwMTebdmLsj6-cwqlAhx6ccP99ZVb_7NUn1zezF_r003Kx849vaVM-KVlhpnQD7dz_Y1RdcbvH7TAZ0ZdpAg</recordid><startdate>20061201</startdate><enddate>20061201</enddate><creator>Wilkie, Andrew O.M.</creator><creator>Bochukova, Elena G.</creator><creator>Hansen, Ruth M. 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Joint deformations</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>MLPA</topic><topic>mosaicism</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>penetrance</topic><topic>Prognosis</topic><topic>Recurrence</topic><topic>Risk Factors</topic><topic>TWIST1</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wilkie, Andrew O.M.</creatorcontrib><creatorcontrib>Bochukova, Elena G.</creatorcontrib><creatorcontrib>Hansen, Ruth M. 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| ispartof | American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2631-2639 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Biological and medical sciences Child, Preschool Craniosynostoses - diagnosis Craniosynostoses - pathology Diseases of the osteoarticular system DNA Mutational Analysis Female FGFR2 Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Middle Aged MLPA mosaicism Mutation Pedigree penetrance Prognosis Recurrence Risk Factors TWIST1 |
| title | Clinical dividends from the molecular genetic diagnosis of craniosynostosis |
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