title: Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA.
abstract: Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and environmental factors involved remain to be identified. Among the different causes, MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA, was considered a potential candidate, because it was found to be abundantly and specifically expressed in epithelial cells of palatal shelves before fusion. After fusion, its expression level was shown to decrease and to become limited to epithelial triangles before disappearing, as fusion is completed. To determine whether MYH9 plays a role in CL/P aetiology, a family-based association analysis was performed in 218 case/parent triads using single-nucleotide polymorphism (SNP) markers. Pairwise and multilocus haplotype analyses identified linkage disequilibrium between polymorphism alleles at the MYH9 locus and the disease. The strongest deviation from a null hypothesis of random sharing was obtained with two adjacent SNPs, rs3752462 and rs2009930 (global p value = 0.001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately.
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Di Stazio
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Jlenia
authors.initials: J
authors.lastname: Marchesini
authors.forename: Filomena
authors.initials: F
authors.lastname: Di Bari
authors.forename: Furio
authors.initials: F
authors.lastname: Pezzetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
authors.forename: Annalisa
authors.initials: A
authors.lastname: Palmieri
authors.forename: Paolo
authors.initials: P
authors.lastname: Carinci
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
mesh_terms: D000483:Alleles; D000818:Animals; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D051379:Mice; D018995:Myosin Heavy Chains / Q000235:genetics* / Q000378:metabolism; D024507:Nonmuscle Myosin Type IIA / Q000235:genetics*; D010159:Palate / Q000196:embryology / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D024507:Nonmuscle Myosin Type IIA; D018995:Myosin Heavy Chains