Table 1 Relevant variants in genes identified in patients affected by maturation arrest and their clinical characteristics.
Gene symbol | Patient code | Left/right testis volume (mL) | FSH (IU/L) | Testis histology | Variant description | Type of variant (status) | MAF (gnomAD) |
|---|---|---|---|---|---|---|---|
Novel causes of maturation arrest | |||||||
ADAD2 | 11–151 | 15/15 | 11.0 | Incomplete SGA sp- | NM_139174.3:c.1186C>T; p.(Gln396Ter) | Stopgain (hom) | n.r. |
11–151 fertile brother | 18/18 | n.a. | n.a. | NM_139174.3:c.1186C>T; p.(Gln396Ter) | Stopgain (het) | n.r. | |
GEMINI-1020 | 15/15 | 5.2 | Incomplete SGA sp- | NM_001145400.2:c.82dupC; p. (Gln28ProfsTer136); chr16:84012049-84224913del | Frameshift insertion (het); gene deletion (het) | 0.0001237 | |
TERB1 | 10–200 | 20/20 | 6.1 | Complete SCA sp- | NM_001136505.2:c.289_290del; p. (Leu97ValfsTer7) NM_001136505.2:c.1813C>T; p. (Arg605Ter) | Frameshift deletion (het); stopgain (het) | n.r.; n.r. |
10–200 NOA brother | 15/15 | 8.0 | n.a. | NM_001136505.2:c.289_290del; p. (Leu97ValfsTer7) NM_001136505.2:c.1813C>T; p. (Arg605Ter) | Frameshift deletion (het); Stopgain (het) | n.r.; n.r. | |
M468 | 19/16 | 6.4 | SCA sp- | NM_001136505.2:c.236C>T; p. (Ala79Val) | Missense (hom) | 0.0000128 | |
SHOC1 | 11–272 | 15/13 | 8.2 | Complete SCA sp- | NM_173521.4:c.797delT; p. (Leu266GlnfsTer6) | Frameshift deletion (hom) | n.r. |
11–272 NOA brother | 15/12 | 11.0 | Complete SCA sp- | NM_173521.4:c.797delT; p. (Leu266GlnfsTer6) | Frameshift deletion (hom) | n.r. | |
M2012 | 19/23 | 5.9 | n.a. | NM_173521.4:c.1085_1086del; p. (Glu362ValfsTer25) | Frameshift deletion (hom) | n.r. | |
M2046 | 10/10 | 15-9 | Complete SCA sp- | NM_173521.4:c.945_948del; p.(Glu315AspfsTer6) NM_173521.4:c.1351del; p. (Ser451LeufsTer23) NM_173521.4:c.1347T>A p. (Cys449Ter) | Frameshift deletion (het); Frameshift deletion (het); stopgain (het) | 0.00002837; n.r; n.r | |
MSH4 | 11–127 | 15/15 | 7.6 | Complete SCA sp- | NM_002440.4:c.1913C>T; p. (Pro638Leu) | Missense (hom) | n.r. |
M1916 | 9/11 | 8.1 | histology n.a. sp- | NM_002440.4:c.2261C>T; p. (Ser754Leu) | Missense (hom) | 0.00003602 | |
RAD21L1 | 07–359 | 14/15 | 5.0 | Complete SCA sp- | NM_001136566.2:c.1543C>T; p. (Arg515Ter) | Stopgain (hom) | 0.0004394 |
07–359 fertile brother | 18/20 | n.a. | n.a. | NM_001136566.2:c.1543C>T; p. (Arg515Ter) | Stopgain (het) | 0.0004394 | |
Previously reported causes of NOA | |||||||
TEX11 | 09–297 | 20/20 | 4.3 | Complete SCA sp- | NM_001003811.2:c.84_651del; p. (28del189aa) | Partial gene deletion (hem) | n.r. |
TEX14 | 11–063 | 14/13 | 6.4 | Incomplete SGA sp- | NM_001201457.1:c.2303_2306del; p. (Gln768ArgfsTer31) NM_001201457.1:c.(554+1_555-1)_(3378+1_3378-1)del p. (185del941aa) | Frameshift deletion (het); partial gene deletion (het) | n.r. |
11–382 | 15/18 | 11.7 | Incomplete SGA sp- | NM_001201457.1:c.3454C>T; p. (Arg1152Ter) | Stopgain (hom) | 0.00002839 | |
STAG3 | 13–567 | 18/18 | 7.1 | Complete SCA sp- | NC_000007.14:g.100180673del; NM_012447.4:c.1645_1657del; p. (His549AlafsTer9) | Splicing (het); frameshift deletion (het) | n.r.; n.r. |
MEIOB | 08–079 | 22/22 | 3.7 | Complete SCA sp- | NM_001163560.3:c.897_1431del; p. (219del178aa) | Partial gene deletion (hom) | n.r. |
09–167 | 15/18 | 6.3 | Complete SCA sp- | NM_001163560.3:c.1140_1143del; p. (Asp381Ter) | Frameshift deletion (hom) | 0.00007159 | |
DMRT1 | 17–204 | 12/12 | 25.6 | Incomplete SGA sp- | NM_021951.3:c.1_540del; p. (1del180aa) | Partial gene deletion (het) | n.r. |
MEI1 | 18–406 | 20/20 | 5.6 | Complete SCA sp- | NM_152513.4:c.1088C>T; p. (Thr363Met) NM_152513.4:c.925C>T; p.(Leu309Phe) | Missense (het); missense (het) | 0.00004277; n.r. |
SYCE1 | 15–285 | 15/18 | 4.1 | Complete SCA sp- | NM_001143764.3: c.1_1113del; p. (1del371aa) | Complete gene deletion (hom) | n.r. |
