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CRISPLD2: a novel NSCLP candidate gene.

Brett T Chiquet1, Andrew C Lidral, Samuel Stal

  • 1Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA.

Human Molecular Genetics
|July 10, 2007
PubMed
Summary

Genetic variations in CRISPLD2 are linked to non-syndromic cleft lip with or without cleft palate (NSCLP). This study found CRISPLD2 association in Caucasian and Hispanic NSCLP cohorts, suggesting its role in NSCLP etiology.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Research

Background:

  • Non-syndromic cleft lip with or without cleft palate (NSCLP) arises from complex genetic and environmental interactions.
  • Identifying specific genes involved in NSCLP is crucial for understanding its etiology and developing targeted interventions.
  • Previous genome scans highlighted the 16q24.1 chromosomal region as a potential area of interest for NSCLP.

Purpose of the Study:

  • To investigate the role of candidate genes within the 16q24.1 region, specifically IRF8 and CRISPLD2, in the development of NSCLP.
  • To analyze the association between genetic variations in IRF8 and CRISPLD2 and NSCLP in diverse populations.

Main Methods:

  • Genotyping of single nucleotide polymorphisms (SNPs) in IRF8 and CRISPLD2 in Caucasian and Hispanic NSCLP families and trios.
  • Analysis of CRISPLD2 in an additional NSCLP cohort from Colombia, South America.
  • Linkage disequilibrium analysis to assess genetic associations and in situ hybridization to determine CRISPLD2 expression patterns during craniofacial development.

Main Results:

  • Significant association found between CRISPLD2 and NSCLP in Caucasian and Hispanic cohorts, particularly with specific SNPs and haplotypes.
  • Altered transmission of CRISPLD2 SNPs was observed in the Hispanic population.
  • No association was detected between IRF8 and NSCLP, or between CRISPLD2 and the Colombian NSCLP cohort. CRISPLD2 expression was confirmed in key craniofacial developmental regions.

Conclusions:

  • Genetic variations in CRISPLD2 play a significant role in the etiology of non-syndromic cleft lip with or without cleft palate.
  • CRISPLD2 is a strong candidate gene for NSCLP, particularly in Caucasian and Hispanic populations.
  • Further research into CRISPLD2's function in craniofacial development is warranted.