TY - JOUR
T1 - 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
AU - Ramocki, Melissa B.
AU - Dowling, James
AU - Grinberg, Inessa
AU - Kimonis, Virginia E.
AU - Cardoso, Carlos
AU - Gross, Alyssa
AU - Chung, June
AU - Martin, Christa Lese
AU - Ledbetter, David H.
AU - Dobyns, William B.
AU - Millen, Kathleen J.
N1 - Funding Information:
supported by NIH Grant P01 NS39404 to WBD and DHL, Medical Scientist National Research Service Award Grant No. PHS 5 T 32 GM07281 to IG and a Brain Research Foundation grant to KJM.
PY - 2003/7/1
Y1 - 2003/7/1
N2 - 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.
AB - 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.
KW - CNS development
KW - Corpus callosum agenesis
KW - Periventricular nodular heterotopia
KW - Translocation
KW - Zn-finger
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U2 - 10.1038/sj.ejhg.5200995
DO - 10.1038/sj.ejhg.5200995
M3 - Article
C2 - 12825074
AN - SCOPUS:10744223290
SN - 1018-4813
VL - 11
SP - 527
EP - 534
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 7
ER -