Major influence of repetitive elements on disease-associated copy number variants (CNVs)

Table 1 Repetitive elements detected at the breakpoints of CNVs associated with clinical phenotypes

Phenotype	Critical genes	Type of variant	Locus	Repetitive element involved	Ref.
MECP2 duplication syndrome	MECP2, L1CAM	Dup	Xq28	Several LCR-MECP2s pairs	[3, 6, 13, 44–46]
Rett syndrome	MECP2	Del	Xq28	Several LCR-MECP2 pairs	[6]
Neurofibromatosis type I	NF1	Del	17q11.2	NF1-REPs A/B/C	[3, 6]
Nephronophthisis	NPHP1	Del	2q13	Several LCR pairs	[11, 47–49]
Mental retardation, X-linked 41 (MRX41)	GDI1	Dup/Trip	Xq28	LCR-K1/L2 pair	[15]
Angelman and Prader-Willi syndromes	UBE3A	Del	15q11-q13	END-repeats (LCRs)	[6, 50]
Smith-Magenis syndrome	RAI1 and PMP22	Del	17p11.2	SMS-REPs (LCRs)	[3, 6, 18]
Williams-Beuren syndrome	28 dosage-sensitive genes	Dup/Tripe/Del	7q11.23	A/B/C LCR blocks	[3, 6, 51]
15q13.1 microdeletion syndrome	CHRNA7	Dup/Trip	15q13.3	BP3/4/5	[3, 6, 52, 53]
3q29 microduplication or microdeletion syndrome	DLG1, PAK2	Dup/Del	3q29	A/B/C LCR blocks	[3, 54, 55]
Pelizaeus-Merzbacher disease	PLP1	Dup/Del	Xq22	LCR-PMD A/B pair	[3, 6, 14]
DiGeorge syndrome/velo-cardio facial syndrome	COMT, TBX1	Del	22q11.2	8 specific LCR22 repeats	[6, 17, 40]
Charcot-Marie-Tooth type 1A	PMP22	Dup	17p12	CMTA1-Reps (LCRs)	[3, 6, 37, 38]

ISSN: 1479-7364