Abstract
Approximately 4,000 babies with non-syndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14, 12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation.
| Original language | English |
|---|---|
| Pages (from-to) | 23-27 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 125 A |
| Issue number | 1 |
| State | Published - Feb 15 2004 |
| Externally published | Yes |
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Keywords
- Candidate genes
- Cleft lip and palate
- Cleft palate
- Complex disorder
- Craniofacial
- Genetics
- Linkage
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Association of Chromosomal Regions 3p21.2, 10p13, and 16p13.3 with Nonsyndromic Cleft Lip and Palate. / Blanton, Susan H; Bertin, Terry; Serna, Maria E.; Stal, Samuel; Mulliken, John B.; Hecht, Jacqueline T.
In: American Journal of Medical Genetics, Vol. 125 A, No. 1, 15.02.2004, p. 23-27.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of Chromosomal Regions 3p21.2, 10p13, and 16p13.3 with Nonsyndromic Cleft Lip and Palate
AU - Blanton, Susan H
AU - Bertin, Terry
AU - Serna, Maria E.
AU - Stal, Samuel
AU - Mulliken, John B.
AU - Hecht, Jacqueline T.
PY - 2004/2/15
Y1 - 2004/2/15
N2 - Approximately 4,000 babies with non-syndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14, 12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation.
AB - Approximately 4,000 babies with non-syndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14, 12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation.
KW - Candidate genes
KW - Cleft lip and palate
KW - Cleft palate
KW - Complex disorder
KW - Craniofacial
KW - Genetics
KW - Linkage
UR - http://www.scopus.com/inward/record.url?scp=0842327233&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0842327233&partnerID=8YFLogxK
M3 - Article
C2 - 14755462
AN - SCOPUS:0842327233
VL - 125 A
SP - 23
EP - 27
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 1
ER -