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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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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. |
format | Online Article Text |
id | pubmed-3783739 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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