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

摘要: Abstract Cleft lip with or without cleft palate is a common birth defect that genetically complex. The nonsyndromic forms have been studied using linkage and candidate-gene association studies only partial success in defining the loci responsible for orofacial clefting. Loci cases suggested on 2p13, 4q31, 6p24, 17q21–q24, 19q13.2. Recently, we identified family which segregated two of three generations balanced chromosomal translocation t(2;19)(q11.2;q13.3). We used positional-cloning strategy to identify novel gene disrupted by chromosome 19. Eight rare ( q > 0.01) variants this were detected DNA 74 unrelated and/or palate; no associated significantly clefting, suggesting not major contributor abnormal craniofacial development. This gene, CLPTM1 , was ubiquitously expressed Northern blots containing RNA from adult tissues whole-mount situ hybridization day 10 12 mouse embryos. encodes transmembrane protein has strong homology Caenorhabditis elegans genes, may belong new family.