The gene LOC100130744, ANKH, OTULIN (uncharacterized LOC100130744| ANKH inorganic pyrophosphate transport regulator| OTU deubiquitinase with linear linkage specificity) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Craniometaphyseal dysplasia, autosomal dominant