title: A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.
abstract: We report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (CL/P), or any of the other phenotypic features presented by the patient. A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P. This is the first report of a possible connection between CLPTM1L and CLP.
authors: Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.
authors: Giselle
authors: G
authors: Izzo
authors: Érika L
authors: ÉL
authors: Freitas
authors: Ana Cristina V
authors: AC
authors: Krepischi
authors: Peter L
authors: PL
authors: Pearson
authors: Luciana R
authors: LR
authors: Vasques
authors: Maria Rita S
authors: MR
authors: Passos-Bueno
authors: Débora R
authors: DR
authors: Bertola
authors: Carla
authors: C
authors: Rosenberg
mesh_terms: D002648:Child; D058674:Chromosome Duplication; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D035683:MicroRNAs / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D019098:Telomerase / Q000235:genetics
chemical_list: C422445:CLPTM1L protein, human; D008565:Membrane Proteins; D035683:MicroRNAs; D009363:Neoplasm Proteins; C509186:TERT protein, human; D019098:Telomerase