Novel cleft susceptibility genes in chromosome 6q

A. Letra, 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

    Research output: Contribution to journalArticle

    16 Scopus citations

    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.

    Original languageEnglish (US)
    Pages (from-to)927-932
    Number of pages6
    JournalJournal of dental research
    Volume89
    Issue number9
    DOIs
    StatePublished - Sep 1 2010

    Keywords

    • chromosome 6q
    • cleft lip/palate
    • fine mapping
    • polymorphism

    ASJC Scopus subject areas

    • Dentistry(all)

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    Letra, A., Menezes, R., Fonseca, R. F., Govil, M., McHenry, T., Murphy, M. J., Hennebold, J. D., Granjeiro, J. M., Castilla, E. E., Orioli, I. M., Martin, R., Marazita, M. L., Bjork, B. C., & Vieira, A. R. (2010). Novel cleft susceptibility genes in chromosome 6q. Journal of dental research, 89(9), 927-932. https://doi.org/10.1177/0022034510370004