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.
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.
Ramocki
Melissa B
MB
Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA.
Dowling
James
J
Grinberg
Inessa
I
Kimonis
Virginia E
VE
Cardoso
Carlos
C
Gross
Alyssa
A
Chung
June
J
Martin
Christa Lese
CL
Ledbetter
David H
DH
Dobyns
William B
WB
Millen
Kathleen J
KJ
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*