Cytogenetic location: 14q32 Genomic coordinates (GRCh38): 14:89,300,001-107,043,718
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q32 | [Creatine kinase, brain type, ectopic expression of] | 123270 | 2 |
Ectopic expression of the B (brain) type of creatine kinase in red cells and platelets is a rare, benign anomaly detected during a newborn screening program for Duchenne muscular dystrophy (Arnold et al., 1978). It is regularly inherited as an autosomal dominant. Gene frequency is about 0.1 per thousand; about 1 in 5,000 persons show the peculiarity. Wienker et al. (1985) found close linkage (no recombination) of CKBE and GM (147100) in 8 families. Moderately close linkage (theta = 0.14; lod = 1.2) between PI (107400) and CKBE was also found. GM and PI map to 14q32. Thus, the CKBE mutation maps to the same region and may be in the CKBB (123280) locus itself; for this reason no asterisk is given this entry. Wienker et al. (1985) suggested that this is the first known mutation in mammals that alters the pattern of tissue specificity in gene expression.
Arnold, H., Lohr, G. W., Scheuerbrandt, G., Beckmann, R. Creatine kinase in human erythrocytes: a newly detected genetic anomaly. Blut 37: 249-256, 1978. [PubMed: 708891] [Full Text: https://doi.org/10.1007/BF01539660]
Wienker, T. F., Ulferts, A., Ott, J., Bender, K., Scheuerbrandt, G., Arnold, H., Ropers, H. H. A dominant mutation causing ectopic expression of the creatine kinase B gene maps on chromosome 14 close to GM. (Abstract) Cytogenet. Cell Genet. 40: 776 only, 1985.