Genetic and environmental risk factors for sagittal craniosynostosis

Joanna S. Zeiger, Terri H. Beaty, Jacqueline B. Hetmanski, Hong Wang, Alan F. Scott, Laura Kasch, Gerald Raymond, Ethylin W. Jabs, Craig Vander Kolk

Research output: Contribution to journalArticle

Abstract

The authors investigated whether genetic and environmental factors influence risk for sagittal craniosynostosis. Cases were ascertained from craniofacial clinics in the Baltimore-Washington metropolitan region. Controls were recruited from the Johns Hopkins newborn nursery and a large pediatric practice in Baltimore County. Forty-two probands with isolated, nonsyndromic sagittal craniosynostosis born in the mid-Atlantic region were included in this analysis. Controls are infants born in Maryland without any known birth defects (n = 182). Odds ratios (OR) and corresponding 95% confidence intervals (CI) were calculated. Cases were genotyped at several loci implicated in malformation syndromes including craniosynostosis. There were no elevated risks for craniosynostosis related to maternal or paternal smoking or maternal vitamin usage. Case mothers consumed less alcohol (OR = 0.38, 95% CI = 0.17-0.85) and had less education than control mothers (P <0.001). All cases that were sequenced were negative for mutations at the following genes: FGFR1 exon IIIa 755C->G, FGFR2 (exons IIIa and IIIc, , FGFR3 exon IIIa, and TWIST exon 1. These findings suggest that whereas TWIST and the FGFR genes are important for syndromic craniosynostosis, they are unlikely to be involved in isolated sagittal craniosynostosis. Parental education and alcohol consumption were associated with sagittal craniosynostosis in this study.

Original languageEnglish (US)
Pages (from-to)602-606
Number of pages5
JournalThe Journal of craniofacial surgery
Volume13
Issue number5
StatePublished - Sep 2002

Fingerprint

Craniosynostoses
Mothers
Exons
Baltimore
Mid-Atlantic Region
Odds Ratio
Confidence Intervals
Education
Nurseries
Vitamins
Alcohol Drinking
Smoking
Alcohols
Newborn Infant
Pediatrics
Genes

Keywords

  • Environmental risk factors
  • Gene sequencing
  • Sagittal craniosynostosis

ASJC Scopus subject areas

  • Surgery

Cite this

Zeiger, J. S., Beaty, T. H., Hetmanski, J. B., Wang, H., Scott, A. F., Kasch, L., ... Vander Kolk, C. (2002). Genetic and environmental risk factors for sagittal craniosynostosis. The Journal of craniofacial surgery, 13(5), 602-606.

Genetic and environmental risk factors for sagittal craniosynostosis. / Zeiger, Joanna S.; Beaty, Terri H.; Hetmanski, Jacqueline B.; Wang, Hong; Scott, Alan F.; Kasch, Laura; Raymond, Gerald; Jabs, Ethylin W.; Vander Kolk, Craig.

In: The Journal of craniofacial surgery, Vol. 13, No. 5, 09.2002, p. 602-606.

Research output: Contribution to journalArticle

Zeiger, JS, Beaty, TH, Hetmanski, JB, Wang, H, Scott, AF, Kasch, L, Raymond, G, Jabs, EW & Vander Kolk, C 2002, 'Genetic and environmental risk factors for sagittal craniosynostosis', The Journal of craniofacial surgery, vol. 13, no. 5, pp. 602-606.
Zeiger, Joanna S. ; Beaty, Terri H. ; Hetmanski, Jacqueline B. ; Wang, Hong ; Scott, Alan F. ; Kasch, Laura ; Raymond, Gerald ; Jabs, Ethylin W. ; Vander Kolk, Craig. / Genetic and environmental risk factors for sagittal craniosynostosis. In: The Journal of craniofacial surgery. 2002 ; Vol. 13, No. 5. pp. 602-606.
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