TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

Table 1 Summary of aCGH results

Locus	Patient ID	Size	CNV	Location	Genes within CNV	Confirmation method
5p14.3	28	1.6 Mb	Del	5:18822021-20417776	CDH18	SNP array, qPCR
9q21.13	3	95 Kb	Del	9:74296070-74391713	TMEM2	SNP array
11q13.4	2	54 Kb	Del	11:73584463-73638725	CHCHD8, PAAF1	SNP array, qPCR
15q26.1	4	96 Kb	Del	15:90883372-90979449	ZNF774, IQGAP1	SNP array, qPCR
16p11.2	69	0.53 Mb	Del	16:29656457–30190734	SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831	SNP array
16p13.3	42	143 Kb	Del	16:6213403-6356820	A2BP1	SNP array, qPCR
17q12	24	1.7 Mb	Del	17:31584620-33353268^a	TBC1D3C, CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3H, TBC1D3C, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2L, DUSP14, AP1GBP1, DDX52, HNF1B, LOC284100	SNP array
19q13.11^b	49	194 Kb	Dupl	19:33532490-33727077	RHPN2, GPATCH1, WDR88, LRP3, SLC7A10	SNP array, qPCR
19q13.12^b	49	0.6 Mb	Dupl	19:35731695-36309487	LSR, USF2, HAMP, MAG, CD22, FFAR1, FFAR3, FFAR2, KRTDAP, DMKN, SBSN, GAPDHS, TMEM147, ATP4A, HAUS5, RBM42, ETV2, COX6B1, UPK1A, ZBTB32, MLL4, TMEM149, U2AF1L4, PSENEN, LIN37, HSPB6, C19orf55, SNX26, PRODH2	SNP array, qPCR

^alocation according to UCSC genome database hg18.
^blikely to include non-duplicated regions, possibly due to other chromosomal rearrangements e.g. inversions within the region or non-functional aCGH probes.
CNV = copy number variations, Del = deletion, Dupl = duplication.
Location according to UCSC genome database hg19 [42].

ISSN: 1750-1172