Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate

被引:29
作者
Blanton, SH
Bertin, T
Serna, ME
Stal, S
Mulliken, JB
Hecht, JT
机构
[1] Univ Texas, Sch Med, Houston, TX 77225 USA
[2] Univ Texas, Sch Publ Hlth, Houston, TX 77225 USA
[3] Univ Virginia, Charlottesville, VA USA
[4] Texas Childrens Hosp, Houston, TX 77030 USA
[5] Childrens Hosp, Boston, MA 02115 USA
关键词
cleft lip and palate; cleft palate; craniofacial; genetics; linkage; candidate genes; complex disorder;
D O I
10.1002/ajmg.a.20426
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Approximately 4,000 babies with nonsyndromic 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. (C) 2003 Wiley-Liss, Inc.
引用
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页码:23 / 27
页数:5
相关论文
共 48 条
[1]   Xenopus ADAM 13 is a metalloprotease required for cranial neural crest-cell migration [J].
Alfandari, D ;
Cousin, H ;
Gaultier, A ;
Smith, K ;
White, JM ;
Darribère, T ;
DeSimone, DW .
CURRENT BIOLOGY, 2001, 11 (12) :918-930
[2]  
Amos C, 1996, AM J HUM GENET, V59, P744
[3]  
Amos C, 1996, AM J HUM GENET, V59, P743
[4]  
ARDINGER HH, 1989, AM J HUM GENET, V45, P348
[5]   Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts [J].
Barrow, LL ;
van Bokhoven, H ;
Daack-Hirsch, S ;
Andersen, T ;
van Beersum, SEC ;
Gorlin, R ;
Murray, JC .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (08) :559-566
[6]   Testing candidate genes for non-syndromic oral clefts using a case-parent trio design [J].
Beaty, TH ;
Hetmanski, JB ;
Zeiger, JS ;
Fan, YT ;
Liang, KY ;
VanderKolk, CA ;
McIntosh, I .
GENETIC EPIDEMIOLOGY, 2002, 22 (01) :1-11
[7]   HUMAN MACROPHAGE METALLOELASTASE - GENOMIC ORGANIZATION, CHROMOSOMAL LOCATION, GENE LINKAGE, AND TISSUE-SPECIFIC EXPRESSION [J].
BELAAOUAJ, A ;
SHIPLEY, JM ;
KOBAYASHI, DK ;
ZIMONJIC, DB ;
POPESCU, N ;
SILVERMAN, GA ;
SHAPIRO, SD .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (24) :14568-14575
[8]   Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population [J].
Blanco, R ;
Chakraborty, R ;
Barton, SA ;
Carreño, H ;
Paredes, M ;
Jara, L ;
Palomino, H ;
Schull, WJ .
HUMAN BIOLOGY, 2001, 73 (01) :81-89
[9]  
BLANTON SH, 2003, IN PRESS AM J MED GE
[10]   AN EPIDEMIOLOGICAL AND GENETIC-STUDY OF FACIAL CLEFTING IN FRANCE .1. EPIDEMIOLOGY AND FREQUENCY IN RELATIVES [J].
BONAITI, C ;
BRIARD, ML ;
FEINGOLD, J ;
PAVY, B ;
PSAUME, J ;
MIGNETUFFERAUD, G ;
KAPLAN, J .
JOURNAL OF MEDICAL GENETICS, 1982, 19 (01) :8-15