title: Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
abstract: We have identified a female patient with a complex phenotype that includes complete agenesis of the corpus callosum, bilateral periventricular nodular heterotopia, and bilateral chorioretinal and iris colobomas. Karyotype analysis revealed an apparently balanced, reciprocal, de novo chromosome translocation t(2;9)(p24;q32). Physical mapping of the translocation breakpoint by fluorescence in situ hybridization and PCR analysis led to the identification of two novel, ubiquitously expressed, Zn-finger-encoding transcripts that are disrupted in this patient. Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult.
authors.affiliation: Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA.
authors.forename: Melissa B
authors.initials: MB
authors.lastname: Ramocki
authors.forename: James
authors.initials: J
authors.lastname: Dowling
authors.forename: Inessa
authors.initials: I
authors.lastname: Grinberg
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
authors.forename: Carlos
authors.initials: C
authors.lastname: Cardoso
authors.forename: Alyssa
authors.initials: A
authors.lastname: Gross
authors.forename: June
authors.initials: J
authors.lastname: Chung
authors.forename: Christa Lese
authors.initials: CL
authors.lastname: Martin
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Millen
mesh_terms: D061085:Agenesis of Corpus Callosum; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic; D016335:Zinc Fingers / Q000235:genetics*