Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect

ConclusionsIn this family, adults withCYP24A1 mutations a gene dose effect is apparent: subjects with biallelic, compound heterozygous mutations (A/B) have a more severe clinical and biochemical phenotype, whereas, subjects with monoallelic mutations demonstrate milder disease manifestations which are not easily characterized through biochemical assessment.

http://link.springer.com/10.1007/s00198-016-3615-6

Source: Osteoporosis International - September 30, 2016 Category: Orthopaedics Source Type: research