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

Melissa B. Ramocki, James Dowling, Inessa Grinberg, Virginia E. Kimonis, Carlos Cardoso, Alyssa Gross, June Chung, Christa Lese Martin, David H. Ledbetter, William B. Dobyns, Kathleen J. Millen

Research output: Contribution to journalArticle

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)527-534
Number of pages8
JournalEuropean Journal of Human Genetics
Volume11
Issue number7
DOIs
StatePublished - Jul 1 2003
Externally publishedYes

Keywords

  • CNS development
  • Corpus callosum agenesis
  • Periventricular nodular heterotopia
  • Translocation
  • Zn-finger

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