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Human Molecular Genetics Advance Access originally published online on July 5, 2007
Human Molecular Genetics 2007 16(18):2241-2248; doi:10.1093/hmg/ddm176
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

CRISPLD2: a novel NSCLP candidate gene

Brett T. Chiquet1,2, Andrew C. Lidral3,4, Samuel Stal5, John B. Mulliken6, Lina M. Moreno3, Mauricio Arco-Burgos7, Consuelo Valencia-Ramirez8, Susan H. Blanton9 and Jacqueline T. Hecht1,*

1 Department of Pediatrics, University of Texas Medical School at Houston, 2 University of Texas Dental Branch at Houston, Houston, TX 77030, USA, 3 Dows Institute for Dental Research and 4 Department of Orthodontics, University of Iowa, Iowa City, IA, USA, 5 Texas Children's Hospital, Houston, TX 77030, USA, 6 Children's Hospital, Boston, MA, USA, 7 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA, 8 College of Dentistry, University of Antioquia, Medellín, Colombia, South America and 9 University of Miami Miller School of Medicine, Miami, FL 33101 USA

* To whom correspondence should be addressed: Tel: +1 7135005764; Fax: +1 7135005689; Email: ejacqueline.t.hecht{at}uth.tmc.edu

Received May 4, 2007; Accepted June 28, 2007

Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interaction between genes and environmental factors. Candidate gene analysis and genome scans have been employed to identify the genes contributing to NSCLP. In this study, we evaluated the 16q24.1 chromosomal region, which has been identified by multiple genome scans as an NSCLP region of interest. Two candidate genes were found in the region: interferon regulatory factor 8 (IRF8) and cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2). Initially, Caucasian and Hispanic NSCLP multiplex families and simplex parent–child trios were genotyped for single nucleotide polymorphisms (SNPs) in both IRF8 and CRISPLD2. CRISPLD2 was subsequently genotyped in a data set comprised of NSCLP families from Colombia, South America. Linkage disequilibrium analysis identified a significant association between CRISPLD2 and NSCLP in both our Caucasian and Hispanic NSCLP cohorts. SNP rs1546124 and haplotypes between rs1546124 and either rs4783099 or rs16974880 were significant in the Caucasian multiplex population (P=0.01, P=0.002 and P=0.001, respectively). An altered transmission of CRISPLD2 SNPs rs8061351 (P=0.02) and rs2326398 (P=0.06) was detected in the Hispanic population. No association was found between CRISPLD2 and our Colombian population or IRF8 and NSCLP. In situ hybridization showed that CRISPLD2 is expressed in the mandible, palate and nasopharynx regions during craniofacial development at E13.5–E17.5, respectively. Altogether, these data suggest that genetic variation in CRISPLD2 has a role in the etiology of NSCLP.


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B. T. Chiquet, S. H. Blanton, A. Burt, D. Ma, S. Stal, J. B. Mulliken, and J. T. Hecht
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
Hum. Mol. Genet., July 15, 2008; 17(14): 2212 - 2218.
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