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Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Authors: Chiquet, Brett T  Hashmi, Syed S  Henry, Robin  Burt, Amber  Mulliken, John B  Stal, Samuel  Bray, Molly  Blanton, Susan H  Hecht, Jacqueline T 
Citation: Chiquet BT, etal., Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20.
Pubmed: (View Article at PubMed) PMID:18716610
DOI: Full-text: DOI:10.1038/ejhg.2008.149

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to NSCLP, most of the genetic susceptibility loci have yet to be defined. To identify additional contributory genes, a high-throughput genomic scan was performed using the Illumina Linkage IVb Panel platform. We genotyped 6008 SNPs in nine non-Hispanic white NSCLP multiplex families and a single large African-American NSCLP multiplex family. Fourteen chromosomal regions were identified with LOD>1.5, including six regions not previously reported. Analysis of the data from the African-American and non-Hispanic white families revealed two likely chromosomal regions: 8q21.3-24.12 and 22q12.2-12.3 with LOD scores of 2.98 and 2.66, respectively. On the basis of biological function, syndecan 2 (SDC2) and growth differentiation factor 6 (GDF6) in 8q21.3-24.12 and myosin heavy-chain 9, non-muscle (MYH9) in 22q12.2-12.3 were selected as candidate genes. Association analyses from these genes yielded marginally significant P-values for SNPs in SDC2 and GDF6 (0.01

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CRRD Object Information
CRRD ID: 12798509
Created: 2017-03-22
Species: All species
Last Modified: 2017-03-22
Status: ACTIVE



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