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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
  • K. Yoshiura
  • J. Machida
  • Sandra Daack-Hirsch, University of Iowa
  • S. R. Patil
  • L. K. Ashworth
  • J. T. Hecht
  • J. C. Murray
Document Type
Peer Reviewed
Publication Date
NLM Title Abbreviation
PubMed ID
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.
Citation Information
K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. R. Patil, et al.. "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" Genomics Vol. 54 Iss. 2 (1998) p. 231 - 240 ISSN: 0888-7543
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