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

European Journal of Oral Sciences
Marcella MartinelliFrancesco Carinci

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.

References

May 16, 2014·Circulation. Cardiovascular Genetics·Xuefei Ma, Robert S Adelstein

Citations

Aug 12, 2003·Gene·Alejandro LealBernd Rautenstrauss
Aug 14, 2003·Genetic Epidemiology·Frank Dudbridge
Nov 5, 2003·The Journal of Biological Chemistry·Eliahu GolombRobert S Adelstein
Mar 19, 2005·The Journal of Biological Chemistry·Jianjun BaoRobert S Adelstein
May 27, 2005·Current Opinion in Genetics & Development·Astanand Jugessur, Jeffrey C Murray
Oct 26, 2005·Nature Genetics·Paul I W de BakkerDavid Altshuler
May 6, 2006·Annals of Human Genetics·Luca ScapoliFrancesco Carinci
Nov 8, 2006·American Journal of Medical Genetics. Part a·Joseph R AvilaJeffrey C Murray
Mar 6, 2007·Journal of Medical Genetics·Marcella MartinelliAnna Savoia
May 24, 2007·The Journal of Biological Chemistry·Jianjun BaoRobert S Adelstein

Related Concepts

MYH14 protein, human
Candidate Disease Gene
Cleft Palate, Isolated
Dysequilibrium Syndrome
SLC3A2 gene
Properdin Deficiency, X-LINKED
MYH14 gene
Non-muscle Myosin
Etiology
Cleft Lip With or Without Cleft Palate

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