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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
  1. Marcella Martinelli1,
  2. Mariateresa Di Stazio2,
  3. Luca Scapoli1,
  4. Jlenia Marchesini3,
  5. Filomena Di Bari4,
  6. Furio Pezzetti1,
  7. Francesco Carinci5,
  8. Annalisa Palmieri1,
  9. Paolo Carinci1,
  10. Anna Savoia2
  1. 1Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Bologna, Italy
  2. 2Medical Genetics, Department of Reproductive and Developmental Sciences, IRCCS Burlo Garofolo Hospital, University of Trieste, Trieste, Italy
  3. 3Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Ferrara, Italy
  4. 4Telethon Institute of Genetics and Medicine, Napoli, Italy
  5. 5Department of DMCCC, Section of Maxillofacial Surgery, University of Ferrara, Ferrara, Italy
  1. Correspondence to:
 F Carinci
 Department of DMCCC, Section of Maxillofacial Surgery, University of Ferrara, Corso Giovecca 203, 44100 Ferrara, Italy;crc{at}


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.

  • CL/P, cleft lip with or without cleft palate
  • LD, linkage disequilibrium
  • MEE, medial edge epithelia
  • MES, medial epithelial seam
  • NMMHCIIA, heavy chain of non-muscle myosin IIA
  • PBS, phosphate-buffered saline
  • SNP, single-nucleotide polymorphism
  • TDT, transmission disequilibrium test
  • TGFβ3, transforming growth factor β3

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  • Competing interests: None declared.

  • Published Online First 2 March 2007

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