Cleft lip with or without cleft palate: Implication of the heavy chain of non-muscle myosin IIA

Marcella Martinelli, Mariateresa Di Stazio, Luca Scapoli, Jlenia Marchesini, Filomena Di Bari, Furio Pezzetti, Francesco Carinci, Annalisa Palmieri, Paolo Carinci, Anna Savoia

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)387-392
Number of pages6
JournalJournal of Medical Genetics
Issue number6
Publication statusPublished - Jun 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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