TABLE 1.
37 patients with SOX2 variants or deletions and their gender, age at time of last evaluation, presence of absence of microphthalmia or anophthalmia, brain anomalies, seizures, cognitive delay, gait abnormalities, autism, growth hormone and gonadotropin deficiencies and genitourinary anomalies
| p | Sex | Age | SOX2 (NM_003106.3) variant | Protein effect | Type of variant/test type | Eye anom. | Brain ano | Sz | Cognitive delay | Gait abnl | Autism | GHD | GD | GU | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 20y | 46 XX t(3;11)(q27;p11.2) | Unk | Translocation/karyotype | BA | + | F | mild | + | − | + | + | + | Driggers et al., 1999; Fantes et al., 2003; Ragge et al., 2005 |
| 2 | F | 18y | arr[GRCh37] 3q26.33 (180102701-181991155)x1 | Loss | Deletion/array (C) | BA | − | − | severe-profound | + | + | + | + | − | |
| 3 | M | 20y | arr[GRCh37] 3q26.33q27.2 (181171210-184706091)x1 | Loss | Deletion/array (C) | BA | Unk | Unk | profound | +, | − | + | + | + | |
| 4 | F | 6y | arr[GRCh37] 3q26.33q26.33 (182902731-182945128)x1 | Loss | Deletion/array (C) | BA | + | + | moderate-severe | Unk | − | NL | NL | − | |
| 5 | F | 26y | arr[GRCh37] 3q26.33q26.33 (182871341-182987855)x1 | Loss | Deletion/array (R) | BM | + | − | severe-profound | + | − | Unk | + | + | Schilter et al., 2013, (pt 4) |
| 6 | F | 14y | 3q26.33 microdeletion (breakpoints Unk) | Loss | Deletion/array (C) | BA | + | + | Unk | Unk | − | Unk | Unk | − | |
| 7 | M | 19y | arr[GRCh37] 3q26.33 (180913778-181432287)x1 | Loss | Deletion/array (R) | BA | + | Unk | severe | Unk | − | + | + | + | Schilter et al., 2013, (pt 1) |
| 8 | F | 12y | arr[GRCh37] 3q26.33q26.33 (180834336-183551661)x1 | Loss | Deletion/array (C) | BA | + | + | severe | + | − | Unk | Unk | − | |
| 9 | M | 6y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (C) | BA | Unk | + | Unk | Unk | − | Unk | Unk | − | |
| 10 | M | 6y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (C) | BA | + | + | severe-profound | + | + | NL | + | + | |
| 11 | F | 11y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (R) | BM | + | Unk | mild-moderate | + | − | + | Unk | + | Schneider et al., 2009, Pt 2 |
| 12 | M | 18y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (R) | BM | − | F | severe | + | − | + | + | + | Schneider et al., 2009, pt 4 |
| 13 | M | 19y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (R) | BM | Unk | Unk | Unk | + | + | Unk | Unk | + | Schneider et al., 2009, pt 3 |
| 14 | F | 2y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (C) | BA | + | − | Unk | + | − | NL | Unk | − | |
| 15 | F | 13y | c.70_89del | p.(Asn24Argfs*65) | Frameshift/Sanger (C) | BA | Unk | − | moderate | + | − | + | + | − | |
| 16 | M | 29y | c.921_930del | p.(lle308Hisfs*60) | Frameshift/Sanger (R) | BA | − | F | mild to moderate | Unk | − | NL | NL | + | |
| 17a | F | 19y | c.551delC | p.(Pro184fs*18) | Frameshift/Sanger (R) | RALM | + | + | severe | + | − | + | + | + | Schneider et al., 2008, Zhou et al., 2008 |
| 18a | F | 12y | c.551delC | p.(Pro184fs*18) | Frameshift/Sanger (R) | BM | + | Unk | Unk | + | − | + | Unk | − | Schneider et al., 2008, Zhou et al., 2008 |
| 19 | M | 12y | c.131C>G | p.(Pro44Arg) | Missense/Sanger (R) | LM | + | − | mild | + | − | Unk | Unk | + | Schneider et al., 2009, pt 9, |
| 20 | M | 18y | c.310G>T | p.(Glu104Ter) | Nonsense/Sanger(R) | BA | + | + | moderate-severe | + | − | + | + | − | Zhou et al., 2008, pt 40A |
| 21 | M | 19y | c.828delG | p.(Met276llefs*95) | Frameshift/Sanger (C) | BA | − | + | moderate- | + | + | Unk | + | + | |
| 22 | F | 7y | c.582_583delGCinsTT | p.(Met194_Gln195delinslleTer) | Nonsense/WES (C) | − | + | + | moderate-severe | + | − | NL | NL | − | |
| 23 | M | 15y | c.486_487dup | p.(Met163Thrfs*2) | Frameshift/Sanger (R) | BA | Unk | + | severe-profound | Unk | − | Unk | Unk | + | Schneider et al., 2009, pt 5 |
| 24 | F | 4y | c.-13_43del | p.? | Initiation codon del/Sanger (C) | RALM | − | − | mild | Unk | − | + | NL | − | |
| 25 | M | 30y | c.166C>G | p.(Arg56Gly) | Missense/Sanger (C) | BA | + | Unk | mild | + | − | + | + | + | |
| 26 | M | 23y | c.941delT | p.(Leu314Profs*57) | Frameshift/Sanger (R) | BA | − | + | mild | + | − | NL | + | − | Schneider et al., 2009, pt 7 |
| 27 | M | 1y | c.600C>G | p.(Tyr200Ter) | Nonsense/NGS (C) | UM | − | − | Unk | Unk | − | Unk | Unk | + | |
| 28 | M | 6y | c.245 T>A | p.(Leu82Ter) | Nonsense/WES (C) | − | + | − | severe-profound | + | + | NL | NL | + | |
| 29 | M | 4y | c.402delC | p.(Gly135Alafs*19) | Frameshift/Sanger (R) | RM | + | Unk | Unk | Unk | − | Unk | Unk | + | |
| 30 | F | 13y | c.16G>T | p.(Glu6Ter) | Nonsense/Sanger(R) | RALM | Unk | Unk | Unk | + | − | Unk | Unk | + | Schneider et al., 2009, (pt 1) |
| 31 | M | 8y | c.542delC | p.(Pro181Argfs*22) | Frameshift/Sanger (C) | LM | − | − | mild | Unk | − | + | Unk | + | |
| 32 | M | 3 mos | c.538_542dupTACCC | p.(Gln182Thrfs*23) | Frameshift/Sanger (C) | BA | − | Unk | Unk | Unk | − | Unk | Unk | − | |
| 33 | F | 12y | c.59delG | p.(Gly20Alafs*26) | Frameshift/Sanger (R) | BM | + | + | mild-moderate | Unk | − | Unk | Unk | − | |
| 34 | M | 13y | c.540C>G | p.(Tyr180Ter) | Nonsense/Research described in Schneider et al., 2009 | RMLA | + | + | Unk | Unk | − | + | Unk | + | Schneider et al., 2009, (pt 6) |
| 35 | F | 25y | c.58_59delinsT | p.(Gly20Serfs*26) | Frameshift/Sanger (C) | BA | − | + | mild | + | − | Unk | + | + | |
| 36 | F | 10y | c.943_944del | p.(Ser315Thrfs*122) | Frameshift/Sanger (C) | LA | Unk | Unk | Unk | + | Unk | Unk | Unk | Unk | |
| 37 | F | 8y | c.480C>G | p.(Tyr160Ter) | Nonsense/WES (C) | BM | + | + | profound | + | − | + | Unk | − | Gorman et al., 2016; Martinez et al., 2019 |
Abbreviations: +, present; −, absent; Anom.: anomalies; BA, bilateral anophthalmia; BM, bilateral microphathlmia; C, clinical; COL, coloboma; DD, developmental delay; F, febrile; GD, Gonadotropin Deficiency; GHD, Growth Hormone Deficiency; GU, Genitourinary; LA, left microphthalmia; LM, left microphthalmia; mo, months; NGS next generation sequencing; NL, normal; Pt, Patient; RA, right anophthalmia; RALM, right anophthalmia left microphthalmia; R, research; Ref., Reference; RM, right microphthalmia, RMLA, right microphthalmia left anophthalmia; SZ, Seizures; UM, unilateral microphthalmia; Unk, unknown; WES whole exome sequencing; y, years.
a
Siblings.