Mutations in PCDH12have been implicated in an autosomal recessive disorder. Bi-allelic nonsense and frameshift mutations in the first exon of PCDH12have been reported so far. Consistent with nonsense-mediated decay, two of these mutations were associated with low expression of the mutated transcript, indicating PCDH12loss of function as the most likely pathophysiological mechanism.
Mutations in PCDH12can be identified using molecular genetic testing. Since the syndrome is not highly recognizable, most mutations will be identified by targeted, exome or genome sequencing.
PCDH12