title: Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.
abstract: Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) aetiology, basing on a sum of considerations. TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. A family based association analysis was performed with a sample study of 405 NSCLP triads. Evidence of association was obtained with both single marker and haplotype analyses, thus providing a support for TFAP2A in NSCLP aetiology.
authors.affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Martinelli
authors.forename: E
authors.initials: E
authors.lastname: Masiero
authors.forename: F
authors.initials: F
authors.lastname: Carinci
authors.forename: P G
authors.initials: PG
authors.lastname: Morselli
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: A
authors.initials: A
authors.lastname: Girardi
authors.forename: U
authors.initials: U
authors.lastname: Baciliero
authors.forename: L
authors.initials: L
authors.lastname: Scapoli
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D050656:Transcription Factor AP-2 / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2