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. Author manuscript; available in PMC: 2021 Feb 3.
Published in final edited form as: Genet Med. 2020 Aug 3;22(12):1956–1966. doi: 10.1038/s41436-020-0907-1

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: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.

NOA: Non-Obstructive Azoospermia; SGA: SpermatoGonial Arrest; SCA: SpermatoCytic arrest; sp-: no sperm retrieved after testis biopsy; n.a.: not available; n.r.: not reported; hom: homozygous; het: heterozygous; hem: hemizygous. Assessment of SYCE1 new clinical evidence/score is not applicable because the deletion removes more than one gene. FSH reference value: 1.5-8 IU/L