Research article summary (published 29 Jun 2009):

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

Full Abstract

OBJECTIVES: 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. METHODS: 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. RESULTS AND CONCLUSION: 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.

Author information

Author/s: Martinelli, M (M); Scapoli, L (L); Pezzetti, F (F); Spinelli, G (G); Lunardi, S (S); Carinci, F (F);

Affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy. marcella.martinelli(-atsign-)unibo.it

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol), published in Ireland. (Language: eng)

Reference: 2009-Jul; vol 73 (issue 7) : pp 929-31

Dates: Created 2009/06/03; Completed 2009/08/28;

PMID: 19307027, status: MEDLINE (last retrieval date: 8/28/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Cleft Lip - genetics Cleft Palate - genetics Genes, erbB-1 - genetics Genes, erbB-2 - genetics Genetic Markers Humans

Mutation, Missense Pedigree Polymorphism, Single Nucleotide Receptor, Epidermal Growth Factor - genetics Receptor, erbB-2 - genetics Receptor, erbB-3 - genetics

Associated Chemicals: Genetic Markers (0) ; Receptor, Epidermal Growth Factor (EC 2.7.1.112) ; Receptor, erbB-2 (EC 2.7.1.112) ; Receptor, erbB-3 (EC 2.7.1.112)

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