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Study of environmental and genetic factors in children with craniosynostosis: A case-control study

BACKGROUND: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. MATERIALS AND METHODS: In this...

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Autores principales: Barik, Mayadhar, Bajpai, Minu, Das, Rashmi Ranjan, Panda, Shasanka Shekhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783739/
https://www.ncbi.nlm.nih.gov/pubmed/24082921
http://dx.doi.org/10.4103/1817-1745.117833
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author Barik, Mayadhar
Bajpai, Minu
Das, Rashmi Ranjan
Panda, Shasanka Shekhar
author_facet Barik, Mayadhar
Bajpai, Minu
Das, Rashmi Ranjan
Panda, Shasanka Shekhar
author_sort Barik, Mayadhar
collection PubMed
description BACKGROUND: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. MATERIALS AND METHODS: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. RESULTS: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. CONCLUSION: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis.
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spelling pubmed-37837392013-09-30 Study of environmental and genetic factors in children with craniosynostosis: A case-control study Barik, Mayadhar Bajpai, Minu Das, Rashmi Ranjan Panda, Shasanka Shekhar J Pediatr Neurosci Original Article BACKGROUND: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. MATERIALS AND METHODS: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. RESULTS: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. CONCLUSION: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3783739/ /pubmed/24082921 http://dx.doi.org/10.4103/1817-1745.117833 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Barik, Mayadhar
Bajpai, Minu
Das, Rashmi Ranjan
Panda, Shasanka Shekhar
Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title_full Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title_fullStr Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title_full_unstemmed Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title_short Study of environmental and genetic factors in children with craniosynostosis: A case-control study
title_sort study of environmental and genetic factors in children with craniosynostosis: a case-control study
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783739/
https://www.ncbi.nlm.nih.gov/pubmed/24082921
http://dx.doi.org/10.4103/1817-1745.117833
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