Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches

Table 1

Genomic regions encompassing genes involved in the development of obesity and developmental delay/intellectual disability.

Known genomic disorder regions associated with obesity
Chr	Loci	Gene(s)^a	Phenotype	OMIM
chr1	1p36	GABRD	Chromosome 1p36 deletion syndrome	607872
chr2	2q37	HDAC4	BDMR syndrome	600430
chr6	6q16	SIM1	Obesity, severe	603128
chr9	9q34	EHMT1	Kleefstra syndrome	610253
chr11	11p13	WT1, PAX6	WAGR syndrome	194072
chr15	15q11.2	NDN, SNRPN	Prader-Willi syndrome	176270
chr16	16p11.2	SH2B1	Chromosome 16p11.2 deletion syndrome, 220 kb	613444
chr16	16p11.2	TBX6	Chromosome 16p11.2 deletion syndrome, 593 kb	611913
chr17	17p11.2	RAI1	Smith-Magenis syndrome	182290
Novel CNV loci playing a role in obesity
Chr	loci	Gene(s)^a	Phenotype	Refs
Chr1	1p21.3	DPYD, MIR137	Deletions associated with ID and (tendency) to overweight	[102]
Chr2	2p25.3	MYT1L	Deletions associated with ID and obesity/overweight	[103]
Chr6	6q14q15	HTR1E, ME1, CYB5R4, SNX14	Deletions Associated with DD, obesity, and a distinct clinical phenotype	[104]
Chr6	6q22	VGLL2	Less penetrant locus for a PWS-like phenotype	[98]
Chr11	11p14.1	BDNF	Deletions associated with ADHD, DD, autism, and obesity	[105]
Chr19	19q12q13.2	AKT2, CEACAM1, CEBPA, LIPE, TGFB1	Duplications described in patients with DD and obesity	[106]

All coordinates are according to build36. Chr.: chromosome; OMIM: Online Mendelian Inheritance in Man; Refs: references.
^aPotential candidate genes for the syndrome phenotype and/or obesity or identifiers of the genomic locations.