A genome wide linkage scan for cleft lip and palate and dental anomalies

Document Type


Peer Reviewed


Publication Date


NLM Title Abbreviation

Am J Med Genet A

Journal/Book/Conference Title

American journal of medical genetics.Part A

PubMed ID


DOI of Published Version


Start Page


End Page



We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families that had a proband with cleft and additional dental anomalies outside the cleft area. Chromosomes (1, 2, 6, 8, 16, and 19) presented regions with LOD scores >2.0. Chromosome 19 has the most compelling results in our study. The LOD scores increased from 3.11 (in the scan of all 46 families with clefts as the only assigned affection status) to 3.91 when the 19 families whose probands present with no additional dental anomalies were studied, suggesting the interval 19p13.12-19q12 may contain a gene that contributes to clefts but not to dental anomalies. On the other hand, we found a LOD score of 3.00 in the 2q22.3 region when dental anomalies data were added to the analysis to define affection status. Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts.


Cleft Lip/genetics, Cleft Palate/genetics, Cytogenetic Analysis, Genome, Human, Humans, Lod Score, Microsatellite Repeats, Tooth Abnormalities/genetics

Published Article/Book Citation

American journal of medical genetics.Part A, 146A:11 (2008) pp.1406-1413. DOI:10.1002/ajmg.a.32295.

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