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Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.

Authors: Birnbaum, Stefanie  Reutter, Heiko  Mende, Meinhard  de Assis, Nilma A  Diaz-Lacava, Amalia  Herms, Stefan  Scheer, Martin  Lauster, Carola  Braumann, Bert  Schmidt, Gül  Martini, Markus  Hemprich, Alexander  Pötzsch, Simone  Knapp, Michael  Nöthen, Markus M  Kramer, Franz-Josef  Mangold, Elisabeth 
Citation: Birnbaum S, etal., Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x.
Pubmed: (View Article at PubMed) PMID:19320731
DOI: Full-text: DOI:10.1111/j.1600-0722.2008.00604.x

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. MYH9, the gene coding for the heavy chain of non-muscle myosin II, has been considered as a good candidate gene in NSCL/P on the basis of its expression profile during craniofacial morphogenesis. Reports in an Italian sample, as well as in an ethnically mixed North American sample, of a positive association between single-nucleotide polymorphisms in the MYH9 gene and NSCL/P have provided further support for the role of MYH9 in the development of NSCL/P. In the present study, we aimed to replicate these findings by conducting a family-based association study with seven single nucleotide polymorphisms in MYH9 using a sample of 248 NSCL/P patients and their parents. Single marker analysis resulted in a highly significant association for rs7078. In haplotype analysis, the most significant result was obtained for the SNP combination (rs7078; rs2071731; rs739097; rs5995288). Our results thus confirm the potential involvement of MYH9 in the etiology of NSCL/P in our patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role.


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CRRD Object Information
CRRD ID: 12798512
Created: 2017-03-22
Species: All species
Last Modified: 2017-03-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.