Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

Table 1

Overview of patient-specific copy number variations and the genes located in these regions, detected by array comparative genomic hybridization analysis.

	Patient	Deletion/; duplication	Region	Start; position	Stop; position		Genes involved
1	ESCO16	Del	1p21.1	104067184	104321250	13	RNPC3/AMY2B/AMY2A/AMY1A/AMY1C/AMY1B
2	ESCO2	Dupl	1q23.1	156764562	156796736	7	PRCC/SH2D2A/NTRK1
3	ESCO29	Dupl	2p22.1	38956776	38968369	3	GALM
4	ESCO2	Del	2p15	62258290	62277149	4	COMMD1
5	ESCO36	Del	2q13	110833640	110983703	20	MALL/NPHP1
6	ESCO19	Del	4q13.3	75019400	75117648	10	MTHFD2L
7	ESCO19	Dupl	4q21.1	76504370	76521476	2	CDKL2
8	ESCO34	Del	5p14.3	21943466	22002677	6	CDH12
9	ESCO25	Del	5p13.1	40779232	40785703	2	PRKAA1
10	ESCO29	Del	6p12.1	52624027	52682610	9	GSTA2/GSTA1
11	ESCO28	Del	6q26	162618199	162825032	23	PARK2
12	ESCO25	Dupl	7p22.2	3144476	3458017	28	SDK1
13	ESCO19	Del	7q11.22	66671745	66672634	2	TYW1
14	ESCO29	Del	7q35	143884029	143953472	4	FLJ43692/OR2A42/OR2A1
15	ESCO2	Dupl	8p23.1	6828426	6837339	2	DEFA1
16	ESCO34	Del	8p22	15403439	15409232	2	TUSC3
17	ESCO34	Dupl	11q24.2	124743538	124798029	11	ROBO3/ROBO4/HEPN1/HEPACAM
18	ESCO36	Del	12p12.2	21011077	21404166	37	SLCO1B3/LST-3TM12/SLCO1B1
19	ESCO25	Dupl	12q14.2	63947732	64116568	6	DPY19L2
20	ESCO19	Del	12q21.32	86695679	86703030	2	MGAT4C
21	ESCO29	Del	12q23.1	99994977	100005332	2	ANKS1B
22	ESCO29	Dupl	13q12.11	20419333	20445320	5	ZMYM5
23	ESCO36	Del	15q14	34671574	34841446	17	GOLGA8A/GOLGA8B + MIR1233-/DQ593032/DQ582939/KI110855
24	ESCO18	Del	16p13.11	14968855	15115579	8	NOMO1/NPIP/PDXDC1
25	ESCO28	Dup	16q12.2	55832511	55865159	5	CES1
26	ESCO2	Del	18q21.2	52212057	52306572	10	C18orf26
27	ESCO25	Del	18q21.31	55931229	55936547	2	NEDD4L
28	ESCO36	Dupl	22q11.21	18894835	19010508	19	DGCR6/PRODH
29	ESCO25	Del	22q13.33	50296855	50301369	2	ALG12
30	ESCO16	Dupl	X	134778328	134910134	12	CT45-1/CT45-2/CT45-4/CT45-3