A Case-Control Study of Nonsyndromic Oral Clefts in Maryland

TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

“…Consistent with this hypothesis, Tgf-b3 -/-knockout mice present with a developmental defect of the secondary palate (Proetzel et al 1995). In humans, however, evidence for any involvement of the TGFB3 gene in development of oral clefts has remained inconclusive, with reports of significant (Maestri et al 1997;Lidral et al 1998;Romitti et al 1999;Mitchell et al 2001;Sato et al 2001;Beaty et al 2002;Scapoli et al 2002;Jugessur et al 2003;Kim et al 2003;Slayton et al 2003;Vieira et al 2003;Suzuki et al 2004) as well as negative (Lidral et al 1997;Tanabe et al 2000;Beaty et al 2001;Morkūniené et al 2007) associations among different populations with nonsyndromic orofacial clefts. In this study, we investigated whether the results of Ichikawa et al (2006), who conducted the most comprehensive study of TGFB3 to date, were also apparent in CL/P families of central European descent.…”

“…Mice with a genetic deletion of Tgf-b3 (-/-) present with either complete cleft palate or severe partial cleft palate (Kaartinen et al 1995;Proetzel et al 1995). Genetic association studies in humans of different ethnicities suggest TGFB3 may be involved in the formation of orofacial clefts (Maestri et al 1997;Lidral et al 1998;Romitti et al 1999;Mitchell et al 2001;Sato et al 2001;Beaty et al 2002;Scapoli et al 2002;Jugessur et al 2003;Kim et al 2003;Slayton et al 2003;Vieira et al 2003;Suzuki et al 2004), although negative studies have also been reported (Lidral et al 1997;Tanabe et al 2000;Beaty et al 2001;Morkūniené et al 2007). Until recently, most studies used a CA repeat located 61.215 bp upstream from translation starting point of TGFB3 as well as a VNTR marker in the 5 0 untranslated region (UTR) (D at -21083 to -21086 (AGAGGG repeat)) and with X5.1 a T [ C substitution [ref.…”

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

“…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.…”

Msx homeobox gene family and craniofacial development

“…In human, mutations in the MSX1 gene cause orofacial clefting and tooth agenesis [95][96][97][98][99][100][101]. The homeodomain of MSX1 is pivotal in mediating its multiple functions such as DNA-binding, protein-protein interactions, protein stability, and transcription repression.…”