Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate

Eur J Oral Sci. 2008 Jun;116(3):287-90. doi: 10.1111/j.1600-0722.2008.00534.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cleft Lip / genetics*
  • Cleft Palate / genetics
  • Gene Frequency
  • Haplotypes
  • Humans
  • Italy
  • Linkage Disequilibrium
  • Myosin Heavy Chains / genetics*
  • Myosin Type II / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • MYH14 protein, human
  • Myosin Type II
  • Myosin Heavy Chains