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Nonsyndromic cleft lip and palate: four chromosomal regions of interest

Susan H Blanton1, Terry Bertin, Sketa Patel

  • 1University of Virginia, Charlottesville, Virginia, USA.

American Journal of Medical Genetics. Part A
|February 3, 2004
PubMed

Insights

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. This study identified eight chromosomal regions associated with NSCLP, with one region showing consistent evidence across multiple studies.

Area of Science:

  • Genetics
  • Birth Defects
  • Genomic Research

Background:

  • Nonsyndromic cleft lip with or without cleft palate (NSCLP) affects 1/700 live births, causing significant morbidity and healthcare costs.
  • NSCLP is a complex disorder influenced by both genetic and environmental factors.
  • Previous genomic scans have indicated potential chromosomal regions linked to NSCLP.

Purpose of the Study:

  • To evaluate chromosomal regions previously identified in genomic scans for association with NSCLP.
  • To identify specific genetic loci contributing to the development of NSCLP.

Main Methods:

  • Analysis of sixty-five multiplex families with NSCLP.
  • Evaluation of chromosomal regions from a prior affected sib-pair genomic scan.
  • Comparison of findings with a second genomic scan of multiplex families from China.

Main Results:

  • Evidence of association for NSCLP was found in eight chromosomal regions.
  • Four regions (2q37, 11p12-14, 12q13, and 16p13) were identified in both this study and a Chinese cohort.
  • The region defined by D11S1392 showed consistent evidence of an NSCLP locus across three independent studies.

Conclusions:

  • The identified chromosomal regions warrant further investigation for NSCLP loci.
  • These findings provide a targeted approach for future genetic studies to pinpoint genes responsible for NSCLP.
  • Consistent results across studies strengthen the evidence for these regions' involvement in NSCLP etiology.

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