title: Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
abstract: We report the molecular characterization of a patient with mild craniofacial and acallosal central nervous system midline defects and a t(4;14)(q25)(q13) chromosome. With the use of flow sorted chromosomes, the translocation breakpoint junction was defined within a 100 kb region with markers mapping to chromosomes 4q25 and 14q13. Analysis of genomic sequences demonstrated that the breakpoint junction at 14q13 was within the third intron of the 5' untranslated region of the MIPOL1 gene (GI: 22048098). On chromosome 4q25, two breakpoint junctions were found. One was about 47 kb distal to the 5' end of a putative gene (GI: 8923996) with unknown function but with partial similarity to kinases, and a second breakpoint was within the 3' end of the PITX2 gene (GI: 21361182) that resulted in the deletion of exons 6 and 7 of this gene. We also searched for microdeletions in a panel of candidate genes mapping within 2 Mb of the translocation breakpoint junction on chromosomes 4 and 14, however, no evidence for deletions or rearrangements was found. The finding of two breaks on chromosome 4q25 suggests a complex microrearrangement, such as an inversion, in addition to a translocation in this patient.
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada T6G 2H7.
authors.forename: Deepak
authors.initials: D
authors.lastname: Kamnasaran
authors.forename: Patricia C
authors.initials: PC
authors.lastname: O'Brien
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Malcolm A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: Diane W
authors.initials: DW
authors.lastname: Cox
mesh_terms: D015139:Blotting, Southern; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D017931:DNA Primers; D017809:Fatal Outcome; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009687:Nuclear Proteins; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D044465:White People; D000097577:Homeobox Protein PITX2
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2