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

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


Alleles, Amino Acid Sequence, Animals, Base Sequence, Caenorhabditis elegans/genetics, Chromosome Mapping, Chromosomes, Human, Pair 19/genetics, Chromosomes, Human, Pair 2/genetics, Cleft Lip/genetics, Cleft Palate/genetics, Cloning, Molecular, DNA Primers/genetics, Humans, Membrane Proteins/genetics, Mice, Molecular Sequence Data, Pedigree, RNA, Messenger/genetics, Sequence Alignment, Sequence Analysis, DNA, Translocation, Genetic/genetics

Published Article/Book Citation

Genomics, 54:2 (1998) pp.231-240.

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