Pedigree and tooth development features of the Chinese family.

<p>(A) Males are indicated by squares, females by circles. Affected individuals are indicated by filled symbols and unaffected individuals by white symbols. Circle containing a dot refers to carrier. An arrow indicates the proband. (B) The panoramic radiographs of the proband confirmed there was no tooth germ in the alveolar bone (red circle) which was the severest symptom of tooth dysplasia. (C) The panoramic radiographs of a healthy control with normal tooth development.</p

The mutations and some selected clinical findings of twenty-three carriers.

a<p>E: Extracellular domain; F: Furin domain; C: Collagen domain; T: TNF homology domain.</p>b<p>Hyper: hypermethylation; Hypo: hypomethylation.</p>c<p>not examined.</p>*<p>unpublished data.</p

<i>EDA</i> promoter’s methylation analysis of 23 carriers.

<p>(A) Pyrosequencing graphs of 2 samples, a hypermethylation carrier and a hypomethylation carrier. Peak heights are proportional to the number of identical residues incorporated. Percentage in pictures means allele frequency of each site. (B) The 95% CI for the 4 sites. The figures which refer to methyl-cytosine percent at that site are calculated as described in the text. (C) The methylation state of each carriers in the 4 sites. Red, white and blue refer to hypermethylation, normal and hypomethylation respectively.</p

Identification of the causative mutation in <i>EDA</i> gene.

<p>Arrows indicate the mutation site. The affected male patient and his mother harbored a frameshift mutation c.573–574insT.</p

Relationship between methylated state and phenotype of XLHED carriers.

<p>Hypermethylated carriers are inclined to have more conical shaped tooth and nail dysplasia than hypomethylated group.</p

Clinical phenotypes of family members in the Chinese pedigree.

<p>A: affected; C: carrier; F: female; M: male; NM: no missing; +: positive; number of ‘+’ symbols reflects the degree of these clinical features; -: negative; 13: Right maxillary canine; 23: Left maxillary canine.</p

Nominally significant associations for NSCL/P with SNPs in and around <i>BMP4</i> jointly considering G and interaction with ETS using conditional logistic regression models in 786 complete Asian trios with data on ETS.

<p>Nominally significant associations for NSCL/P with SNPs in and around <i>BMP4</i> jointly considering G and interaction with ETS using conditional logistic regression models in 786 complete Asian trios with data on ETS.</p

Number of complete NSCL/P trios by race, recruitment site, and maternal exposure to tobacco smoking, environmental tobacco smoke, alcohol consumption and multivitamin supplements during the critical peri-conceptional period of pregnancy from an international cleft consortium.

<p>*NA: information missing.</p><p>Number of complete NSCL/P trios by race, recruitment site, and maternal exposure to tobacco smoking, environmental tobacco smoke, alcohol consumption and multivitamin supplements during the critical peri-conceptional period of pregnancy from an international cleft consortium.</p

Linkage and associations with NSCLO, NSCLP and NSCL/P for <i>rs7156227</i> near <i>BMP4</i> jointly considering G and interactions with ETS and VIT in Asian trios after those exposed to SMK and ALCOHOL were dropped.

<p>Linkage and associations with NSCLO, NSCLP and NSCL/P for <i>rs7156227</i> near <i>BMP4</i> jointly considering G and interactions with ETS and VIT in Asian trios after those exposed to SMK and ALCOHOL were dropped.</p

Linkage and associations with NSCL/P for <i>rs7156227</i> near <i>BMP4</i> jointly considering G and interactions with ETS and VIT using conditional logistic regression models in 745 complete Asian trios with data on both ETS and VIT.

<p>*73: genotyping for SNP <i>rs7156227</i> was failed for mother of one trio.</p><p><i>P</i>_3df LRT = 4.13*10⁻⁴.</p><p>Linkage and associations with NSCL/P for <i>rs7156227</i> near <i>BMP4</i> jointly considering G and interactions with ETS and VIT using conditional logistic regression models in 745 complete Asian trios with data on both ETS and VIT.</p