title: Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.
abstract: Clefts of the orofacial region are among the most common facial defects and are caused by abnormal facial development during gestation. Cleft lip with or without cleft palate (CL/P) is a birth defect with a complex etiology resulting from a mixture of genetic and environmental factors. In the present study we considered myosin 14 (MYH14) as a candidate gene for CL/P. This gene codes for the heavy chain of non-muscle myosin IIC (NMMHC-IIC), maps in the OFC3 region, and shares significant homology with myosin 9, a gene that our group has recently seen to be involved in CL/P. A linkage disequilibrium investigation was conducted with six single nucleotide polymorphisms in MYH14 and a sample of 239 CL/P nonsyndromic patients and their parents. Our family-based investigation provided no evidence of association between MYH14 and CL/P alleles. These data do not support the involvement of MYH14 in CL/P among the Italian population.
authors.affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro, Bologna, Italy. marcella.martinelli@unibo.it
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.forename: Marzia
authors.initials: M
authors.lastname: Arlotti
authors.forename: Annalisa
authors.initials: A
authors.lastname: Palmieri
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Di Stazio
authors.forename: Furio
authors.initials: F
authors.lastname: Pezzetti
authors.forename: Elena
authors.initials: E
authors.lastname: Masiero
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D018995:Myosin Heavy Chains / Q000235:genetics*; D024462:Myosin Type II / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human