Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype

The HUGO Journal

Official Journal of the Human Genome Organisation

Table 2 Rare CNVs associated with disease

Disease	Chromosomal locus	Genes	Risk-associated copy number change	Reference
Parkinson’s disease	4q22.1	SNCA	Triplication (4 copies)	Singleton et al. (2003)
Autosomal dominant early-onset Alzheimer’s Disease	21q21	APP	Duplication (3 copies)	Rovelet-Lecrux et al. (2006)
Hereditary pancreatitis	7q34	PRSS1 and PRSS2	Triplication (4 copies)	Le Marechal et al. (2006)
Autism	Multiple	Multiple	Deletions and duplications	Sebat et al. (2007) and Glessner et al. (2009)
Bipolar disorder	3q13.3	GSK3β	Duplication	Lachman et al. (2007)
Schizophrenia	Multiple	Multiple	Deletions and duplications	Xu et al. (2008) and Walsh et al. (2008)
Tetralogy of fallot	Multiple	Multiple	Deletions and duplications	Greenway et al. (2009)
Obesity	Multiple	Multiple	Deletions and duplications	Bochukova et al. (2010)
Obesity	16p11.2	Multiple	Deletion	Walter et al. (2010)