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. 2010 Sep;89(9):927-32.
doi: 10.1177/0022034510370004. Epub 2010 May 28.

Novel cleft susceptibility genes in chromosome 6q

A Letra  1 , R Menezes, R F Fonseca, M Govil, T McHenry, M J Murphy, J D Hennebold, J M Granjeiro, E E Castilla, I M Orioli, R Martin, M L Marazita, B C Bjork, A R Vieira
Affiliations

Novel cleft susceptibility genes in chromosome 6q

A Letra et al. J Dent Res. 2010 Sep.

Abstract

Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. We genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. We found association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Caucasian families. Haplotype analyses support the individual associations with PRSS35. We found Prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis, whereas Snap91 was expressed in the adult brain. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene.

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Figures

Figure.
Figure.
Analyses of Prss35 and Snap91 gene expression during craniofacial development in mice. Prss35 (A) and Snap91 (B) gene expression was performed with cDNA generated from whole embryos (ED 10 through ED 18). Prss35 expression in the head (C) and palate (D) of mouse embryos at critical stages for palate development (ED12-E15). β-Actin (Actb) was used as a normalization control. NTC, no template control; ED, embryonic day.
See this image and copyright information in PMC

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