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NOVEL CLEFT SUSCEPTIBILITY GENES IN CHROMOSOME 6Q
Letra, A. et al. | Date Issued: 2010
Author
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.
Affilliation
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA.
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA.
Universidade Federal do Rio de Janeiro. Centro de Ciências da Saúde. Departamento de Genética. Estudo Colaborativo Latino-Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA.
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA.
Oregon Health & Science University. Oregon National Primate Research Center. Oregon National Primate Research Center. Portland, OR, USA.
Oregon Health & Science University. Oregon National Primate Research Center. Oregon National Primate Research Center. Portland, OR, USA.
Universidade Federal Fluminense. Instituto de Biologia. Departamento de Biologia Celular e Molecular. Niterói, RJ, Brasil.
Fundação Oowaldo Cruz. Instituto Oswaldo Cruz. Estudo Colaborativo Latino-Americano de Malformações Congênitas. INAGEMP. Rio de Janeiro, RJ, Brasil / Centro de Educación Médica y Investigaciones Clínícas Norberto Quirino. Buenos Aires Argentina.
Universidade Federal do Rio de Janeiro.Centro de Ciências da Saúde. Departamento de Genética. Estudo Colaborativo Latino-Americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Saint Louis University. Department of Pediatrics. St. Louis, MO, USA.
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA / University of Pittsburgh. Graduate School of Public Health,. Department of Human Genetics. Pittsburgh, PA, USA / University of Pittsburgh. School of Medicine. Department of Psychiatriy. Pittsburgh, PA, USA.
Harvard Medical School. Gentics Division, Brigham and Women´s Hospital. Boston, MA, USA.
University of Pittsburgh. Department of Oral Biology. Center for Craniofacial and Dental Genetics, PA, USA / University of Pittsburgh. School of Dental Medicine. Department of Pediatric Dentistry, Pittsburg, PA, USA..
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.
Keywords in Portuguese
Lábio leporino
mapeamento fino
Polimorfismo
Cromossomo 6q
 
Keywords
cleft lip/palate
fine mapping
chromosome 6q
 
Publisher
SAGE Publications
Citation
LETRA, A. et al. Novel Cleft Susceptibility Genes in Chromosome 6q. Dent Res, v.89, n.9, p. 927-932, 2010.
DOI
10.1177/0022034510370004
ISSN
0022-0345