The 25 CNVs were not located at known chromosomal loci for PCG, namely GLC3A, which harbors CYP1B1 (2p21), GLC3B (1p36.2-p36.1), or GLC3C (14q23), and did not include any target genes associated with PCG or anterior segmental dysgenesis.
Fluorescence Labeled Multiplex-PCR was used to genotype 12 short tandem repeats (STRs) within GLC3C region and transmission disequilibrium test (TDT) was used to analyze the association between PCG and these STR markers.
Observation of the absence of linkage to GLC3B and GLC3C in at least nine families without CYP1B1 mutations suggests that at least one PCG-causing locus other than GLC3A, GLC3B, and GLC3C may exist.