Article

Mutation detection in FGFR2 craniosynostosis syndromes.

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia.
Human Genetics (impact factor: 5.07). 03/1997; 99(2):251-5. DOI:10.1007/s004390050348 pp.251-5
Source: PubMed

ABSTRACT Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.

0 0
 · 
0 Bookmarks
 · 
28 Views
  • Source
    Article: 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 VanderKolk
    [show abstract] [hide abstract]
    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 ( < 0.001). All cases that were sequenced were negative for mutations at the following genes: exon IIIa 755C->G, (exons IIIa and IIIc,), exon IIIa, and exon 1. These findings suggest that whereas TWIST and the 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.
    Journal of Craniofacial Surgery 10/2002; 13(5):602-6. · 0.82 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

acanthosis nigricans
 
Apert
 
autosomal dominant craniosynostosis syndromes
 
exon IIIc
 
exons IIIa
 
FGFR2
 
FGFR2-related craniosynostosis syndromes
 
having mild Crouzon syndrome
 
IIIc
 
mutations
 
nine mutations
 
novel G-to-C splice site mutation at-1
 
patients
 
phenotypic variability
 
specific mutation
 
unrelated patients
 

G E Hollway