Table 1 CUX1 variants in patients with a reported variation of sex development
Patient | Reference (patient) | Gender | Genomic test | Mutation type | Affected protein | Variant details | Inheritance | Variation of sex development | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic change (hg19) | Genomic change (hg38) | Transcript change (NM_001202543.2) | Protein change (NP_001189472.1) | ||||||||
1 | Oppermann et al. (4) | Male | Trio WES | Nonsense | CUX1, CASP | Chr7:101754985C > T | Chr7:102111705C > T | c.571C > T | p.Gln191* | de novo | Redundant foreskin |
2 | Oppermann et al. (6) | Male | Trio WES | Nonsense | CUX1, CASP | Chr7:101821872G > T | Chr7:102178592G > T | c.985G > T | p.Glu329* | maternal | Unilateral cryptorchidism |
3 | Oppermann et al. (8) | Male | Singleton WES | Deletion | CUX1, CASP | Chr7:101833133del | Chr7:102189853del | c.1091del | p.Glu364Glyfs*2 | paternal | Penile hypospadias, bilateral cryptorchidism |
4 | Oppermann et al. (11) | Male | Singleton WES | Deletion | CUX1 | Chr7:101840267del | Chr7:102196987del | c.1609del | p.Ser537Alafs*39 | de novo | Bilateral cryptorchidism |
5 | Oppermann et al. (17) | Male | Singleton WES | Frameshift | CUX1 | Chr7:101845479del | Chr7:102202199del | c.2935del | p.Glu979Argfs*24 | paternal | Bilateral cryptorchidism |
6 | Oppermann et al. (21) | Male | Trio WES | Deletion | CUX1 | Chr7:101870817del | Chr7:102227537del | c.3334del | p.Gln1112Serfs*19 | de novo | Micropenis |
7 | Oppermann et al. (22) | Male | Trio WES | Deletion | CUX1 | Chr7:101877398_101877401del | Chr7:102234118_102234121del | c.3533_3536del | p.Arg1178Profs*9 | maternal | Bilateral inguinal hernia, penile adhesions |
8 | Oppermann et al. (24) | Male | Trio WES | Missense | CUX1 | Chr7:101877499A > T | Chr7:102234219 > T | c.3634A > T | p.Met1212Leu | de novo | Cryptorchidism |
9 | Oppermann et al. (31) Platzer et al. (9) | Male | Microarray | Large deletion | CUX1, CASP | arr[GRCh37] 7q22.1(101658876_101901426) × 1 | del exons 3–24 | p.? | de novo, mosaic | Hypospadias | |
10 | Oppermann et al. (32) Platzer et al. (8) | Male | Microarray | Large deletion | CUX1, CASP | arr[GRCh37] 7q22.1(101759560_101893297) × 1 | del exons 9–24 | p.? | de novo | Hypospadias | |
11 | Oppermann et al. (F1) | Female | Microarray | Deletion | CUX1 | arr[GRCh37] 7q22.1(101736364 × 2,101739550_101758584 × 1101771851 × 2)dn | del exon 5–8 | p.? | de novo | Normal external genitalia but hemi-uterus | |
12 | Oppermann et al. (F2) | Female | Trio WGS | Frameshift | CUX1 | Chr7:101892035_101892036dup | Chr7:102248755-102248756dup | c.4264_4265dup | p.Ala1423Profs*74 | de novo | Clitoris hypertrophy |
13 | This report | Male (XY) | Microarray/Trio WES | Deletion | CUX1 | Chr7:101713519_101813930del | Chr7:102070239_102170650del | c.223-100_861 + 100del | p.Ile75_Val287del | maternal | Torsion of the penis, chordee, penoscrotal tethering and a bifid glans within a glandular hypospadias |