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Title: Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands: Prenatal diagnosis of cleft lip

Authors:
 [1];  [2];  [1];  [2];  [1];  [1]
  1. Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen The Netherlands
  2. Department of Obstetrics, University Medical Centre Amsterdam, Amsterdam The Netherlands
Publication Date:
Sponsoring Org.:
USDOE Office of Electricity Delivery and Energy Reliability (OE), Power Systems Engineering Research and Development (R&D) (OE-10)
OSTI Identifier:
1400450
Grant/Contract Number:
ZonMw; project number 200320012
Resource Type:
Journal Article: Publisher's Accepted Manuscript
Journal Name:
Ultrasound in Obstetrics & Gynecology
Additional Journal Information:
Journal Volume: 48; Journal Issue: 4; Related Information: CHORUS Timestamp: 2017-10-20 14:46:23; Journal ID: ISSN 0960-7692
Publisher:
Wiley Blackwell (John Wiley & Sons)
Country of Publication:
Country unknown/Code not available
Language:
English

Citation Formats

Fleurke-Rozema, J. H., van de Kamp, K., Bakker, M. K., Pajkrt, E., Bilardo, C. M., and Snijders, R. J. M. Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands: Prenatal diagnosis of cleft lip. Country unknown/Code not available: N. p., 2016. Web. doi:10.1002/uog.15834.
Fleurke-Rozema, J. H., van de Kamp, K., Bakker, M. K., Pajkrt, E., Bilardo, C. M., & Snijders, R. J. M. Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands: Prenatal diagnosis of cleft lip. Country unknown/Code not available. doi:10.1002/uog.15834.
Fleurke-Rozema, J. H., van de Kamp, K., Bakker, M. K., Pajkrt, E., Bilardo, C. M., and Snijders, R. J. M. 2016. "Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands: Prenatal diagnosis of cleft lip". Country unknown/Code not available. doi:10.1002/uog.15834.
@article{osti_1400450,
title = {Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands: Prenatal diagnosis of cleft lip},
author = {Fleurke-Rozema, J. H. and van de Kamp, K. and Bakker, M. K. and Pajkrt, E. and Bilardo, C. M. and Snijders, R. J. M.},
abstractNote = {},
doi = {10.1002/uog.15834},
journal = {Ultrasound in Obstetrics & Gynecology},
number = 4,
volume = 48,
place = {Country unknown/Code not available},
year = 2016,
month = 9
}

Journal Article:
Free Publicly Available Full Text
Publisher's Version of Record at 10.1002/uog.15834

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  • Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixedmore » model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.« less
  • Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to themore » effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.« less
  • The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with themore » TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.« less
  • The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from withinmore » families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.« less
  • Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was testedmore » under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.« less