Characterization of a Novel Gene Disrupted by a Balanced Chromosomal Translocation t(2;19)(q11.2;q13.3) in a Family with Cleft Lip and Palate

Yoshiura, Koh Ichiro; Machida, Junichiro; Daack-Hirsch, Sandra; Patil, Shivanand R.; Ashworth, Linda K.; Hecht, Jacqueline; Murray, Jeffrey C.

doi:10.1006/geno.1998.5577

Cited by 69 publications

(63 citation statements)

References 26 publications

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“…We have previously studied the 19q13 region and have found a strong association with a marker in PVR in two independent cleft populations (South America, P =0.0007; and Iowa, P =0.0009) [Warrington et al, 2006]. Previous publications have also suggested the 19q13 region and the BCL3 gene [Stein et al, 1995;Amos et al, 1996;Maestri et al, 1997;Wyszynski et al, 1997;Martinelli et al, 1998;Yoshiura et al, 1998;Carreño et al, 2002;Gaspar et al, 2002;Marazita et al, 2002a, b;Blanco et al, 2004;Morkûniené et al, 2007] although a few studies did not replicate the association between the 19q13 region and clefts [Wong et al, 2000;Beaty et al, 2001;Fujita et al, 2004;Pezzetti et al, 2007]. Our results further support a gene contributing to clefts resides in this region, which appears to be upstream from 19q13 based on our preliminary linkage results.…”

Section: Discussionmentioning

confidence: 82%

A genome wide linkage scan for cleft lip and palate and dental anomalies

Vieira

McHenry

Daack-Hirsch

et al. 2008

American J of Med Genetics Pt A

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Section: Discussionmentioning

confidence: 82%

A genome wide linkage scan for cleft lip and palate and dental anomalies

Vieira

McHenry

Daack-Hirsch

et al. 2008

American J of Med Genetics Pt A

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“…Recently, two relevant genes or gene clusters with balanced translocations and CL/P have been identified: the first gene at 19q13 [33] and the second gene at 2q32 [34 • ]. The candidate gene transected at 2q32 is SATB2.…”

Section: Clues From Genomic Rearrangementsmentioning

confidence: 99%

Orofacial clefting: recent insights into a complex trait

Jugessur

Murray

2005

Current Opinion in Genetics & Development

192

168

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Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches have recently been applied to investigate the causes of clefts. These include examining Mendelian forms of clefting to identify genes that might also be implicated in isolated clefting, analyzing chromosomal rearrangements in which clefting is part of the resultant phenotype, studying animal models in which clefts arise either spontaneously or as a result of mutagenesis experiments, exploring how expression patterns correlate with gene function and examining the effects of gene-environment interactions. Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting.

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“…Evidence for a cleft susceptibility locus in the 19q13.1 region has been found from linkage and association studies [9, 41,42], as well as a translocation cosegregating with CL/P [43]. A variety of genes have been studied, including BCL3, PVRL2, CLPTM1, and TGFB1.…”

Section: Q131 (Bcl3 Clptm1 Pvrl2 Tgfb1)mentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

111

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Purpose of review-Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.Recent findings-The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described.Summary-With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene-environment and gene-gene interactions to provide knowledge for risk counseling and the development of preventive therapies.

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Characterization of a Novel Gene Disrupted by a Balanced Chromosomal Translocation t(2;19)(q11.2;q13.3) in a Family with Cleft Lip and Palate

Cited by 69 publications

References 26 publications

A genome wide linkage scan for cleft lip and palate and dental anomalies

A genome wide linkage scan for cleft lip and palate and dental anomalies

Orofacial clefting: recent insights into a complex trait

Progress toward discerning the genetics of cleft lip

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