Lack of association between common polymorphisms of epidermal growth factor receptors and nonsyndromic cleft lip with or without cleft palate

International Journal of Pediatric Otorhinolaryngology
Marcella MartinelliFrancesco Carinci


Nonsyndromic cleft lip with or without cleft palate (CL/P) is a frequent craniofacial malformation with a complex aetiology. Since the first report of an association between DNA sequence variants at the transforming growth factor alpha gene (TGFA) and nonsyndromic oral clefts, several studies have been carried out, which have produced conflicting results. Overall, TGFA is considered as a genetic clefting modifier in humans. Murine models indicate that the Tgfa product (tgfalpha), as well as its receptor (Egfr), actively participates in palate development. Notably, Egfr null mice showed an increased incidence in orofacial clefts. In the present study, genes which code for subunits of epidermal growth factor receptors (EGFRs) have been considered as candidate genes for CL/P. A family based investigation was performed using a sample of 239 case/parent triads. The aim was to test for an allelic association between common non-synonymous polymorphisms in EGFR genes and CL/P. The results did not suggest any evidence of a link between the investigated polymorphisms and CL/P, however the involvement of different polymorphisms or mutations in such genes cannot be excluded.


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Related Concepts

Recombinant Transforming Growth Factor
ErbB-2 Receptor
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TGFA gene
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