Table 4.

Specific example of copy number variation (CNV) disease mechanisms

Mechanism	Affected gene	Disease	Reference(s)a
Gene dosage	PMP22	CMT1A/HNPP	S11, S40, S41, S60
Gene interruption	F8	Hemophilia A	S2
Gene fusion	CYP11B1, CYP11B2	Hypertension and GRAb	S39
Position effects	SOX9	Campomelic dysplasia	S7, S66
Unmasking of recessive alleles or functional polymorphism	FXII	Sotos syndrome	S35
Potential transvection effect	Rai1	SMS	S73

^aFor the list of supplemental references, follow the Supplemental Material link from the Annual Reviews home page at http://www.annualreviews.org.

^bGRA, glucocorticoid-remediable aldosteronism.