Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate.
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.
Martinelli
Marcella
M
Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro, Bologna, Italy. marcella.martinelli@unibo.it
Arlotti
Marzia
M
Palmieri
Annalisa
A
Scapoli
Luca
L
Savoia
Anna
A
Di Stazio
Mariateresa
M
Pezzetti
Furio
F
Masiero
Elena
E
Carinci
Francesco
F
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
D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human