Literature DB >> 12733956

Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.

Rebecca L Slayton1, Laura Williams, Jeffrey C Murray, James J Wheeler, Andrew C Lidral, Carla J Nishimura.   

Abstract

OBJECTIVE: The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft.
SUBJECTS: One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information.
METHOD: The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis.
RESULTS: The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p =.029) and transforming growth factor beta 3 (TGFB3) (p =.024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype.
CONCLUSIONS: In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.

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Year:  2003        PMID: 12733956      PMCID: PMC2752356          DOI: 10.1597/1545-1569_2003_040_0274_gasocl_2.0.co_2

Source DB:  PubMed          Journal:  Cleft Palate Craniofac J        ISSN: 1055-6656


  37 in total

1.  Characterization of the human HOX 7 cDNA and identification of polymorphic markers.

Authors:  B J Padanilam; H S Stadler; K A Mills; L B McLeod; M Solursh; B Lee; F Ramirez; K H Buetow; J C Murray
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150

2.  A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Authors:  H Vastardis; N Karimbux; S W Guthua; J G Seidman; C E Seidman
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3.  Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate.

Authors:  H H Ardinger; K H Buetow; G I Bell; J Bardach; D R VanDemark; J C Murray
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4.  A PCR method for detecting polymorphism in the TGFA gene.

Authors:  A M Basart; J F Qian; E May; J C Murray
Journal:  Hum Mol Genet       Date:  1994-04       Impact factor: 6.150

Review 5.  The ectrodactyly-ectodermal dysplasia-clefting syndrome: a literature review and case report.

Authors:  N M King; M C Tong; J Y Ling
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6.  Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines.

Authors:  A C Lidral; J C Murray; K H Buetow; A M Basart; H Schearer; R Shiang; A Naval; E Layda; K Magee; W Magee
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7.  Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes.

Authors:  P Nieminen; S Arte; S Pirinen; L Peltonen; I Thesleff
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8.  Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants.

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Authors:  A C Lidral; B C Reising
Journal:  J Dent Res       Date:  2002-04       Impact factor: 6.116

10.  Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development.

Authors:  I Satokata; R Maas
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3.  Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

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4.  Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

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5.  Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

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8.  TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate.

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10.  Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

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