CDK5RAP2
MIM.608201 9q33.3
Pathology
germline mutations in primary autosomal recessive microcephaly type 3 (MIM.604804)
CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
References
Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA fusion gene. Genes Chromosomes Cancer. 2006 Oct;45(10):950-6. PMID: #16845659#
Bond, J.; Roberts, E.; Springell, K.; Lizarraga, S.; Scott, S.; Higgins, J.; Hampshire, D. J.; Morrison, E. E.; Leal, G. F.; Silva, E. O.; Costa, S. M. R.; Baralle, D.; Raponi, M.; Karbani, G.; Rashid, Y.; Jafri, H.; Bennett, C.; Corry, P.; Walsh, C. A.; Woods, C. G. : A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genet. 37: 353-355, 2005. PMID : #15793586#
Moynihan, L.; Jackson, A. P.; Roberts, E.; Karbani, G.; Lewis, I.; Corry, P.; Turner, G.; Mueller, R. F.; Lench, N. J.; Woods, C. G. : A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am. J. Hum. Genet. 66: 724-727, 2000. PMID : #10677332#