Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
4.1. Future Research Directions
4.2. Strengths and Limitations
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
References
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Author (Year) | Design | Conflict | Age (Years) | Subjects | % Females | Cases Relationship | Ethnicity | Parents Relationship |
---|---|---|---|---|---|---|---|---|
Steffen et al. [18] (1998) | CS | NR | 6.75 | 2 | 100 | Sisters | NR | C |
Jen et al. [8] (2002) | CS | NR | 0.1–18 | 6 | 33 | Family | Indian/Arabian | C |
Pieh et al. [12] (2002) | CS | NR | 32 | 2 | 0 | Brothers | Italian | C |
Lo et al. [19] (2004) | CS | NR | 12 | 3 | 66.6 | Siblings | Pakistani | NC |
Rossi et al. [27] (2004) | CR | NR | 13 | 1 | 100 | NA | NR | C |
Incecik et al. [20] (2005) | CS | NR | 15 | 2 | 50 | Siblings | NR | C |
Chan et al. [21] (2006) | CS | No | 3 | 2 | 50 | None | Caucasian | NC |
Dos Santos et al. [28] (2006) | CR | NR | 2 | 1 | 0 | NA | NR | NC |
Haller et al. [29] (2008) | CR | No | 14 | 1 | 0 | NA | Kosovar | NR |
Abu-Amero et al. [37] (2009) | CS | No | 11.1 | 7 | 71 | Brothers/Sisters | Saudi Arabian/Sudanese | C |
Amouri et al. [4] (2009) | CS | NR | 6–34 | 10 | NR | NR | Tunisian | C |
Bomfim et al. [30] (2009) | CR | NR | 7 | 1 | 0 | NA | Brazilian | C |
Avadhani et al. [31] (2010) | CR | NR | 14 | 1 | 0 | NA | Indian | NC |
Abu-Amero et al. [32] (2011) | CS | No | 11.2 | 4 | 0 | Brothers | Afghani | C |
Abu-Amero et al. [14] (2011) | CR | No | 8 | 1 | 0 | Mother | Serbian | NC |
Jain et al. [23] (2011) | CS | NR | 10.5 | 2 | 100 | Sisters | Indian | NR |
Ng et al. [11] (2011) | CR | NR | 55 | 1 | 0 | NA | Indian | C |
Volk et al. [33] (2011) | CR | NR | 6.9 | 4 | 100 | Sisters/None | Turkish/Saudi Arabian | C |
Bakbak and Kansu [24] (2012) | CS | No | 13 | 2 | 100 | Sisters | Turkish | C |
Kurian et al. [25] (2013) | CS | NR | 6.75 | 2 | 100 | None | Kosovar/Qatari | C |
Pina et al. [34] (2014) | CR | NR | 13 | 1 | 100 | NA | Portuguese | NC |
Bozdoğan et al. [35] (2017) | CR | No | 22 | 1 | 100 | None | Turkish | C |
Mendes Marques et al. [26] (2017) | CS | No | 12 | 2 | 50 | NA | African | NC |
Lin et al. [36] (2018) | CR | NR | 55 | 1 | 100 | None | NR | NC |
Rousan et al. [3] (2019) | CS | No | 12.8 | 6 | 66.6 | Family | Jordanian | C |
Author (Year) | BCVA | Tropias | Horizontal Gaze | Vertical Gaze | MRI | Spine |
---|---|---|---|---|---|---|
Steffen et al. [18] (1998) | 20/30 | NR | Absence | Normal | Normal | Cobb’s angle 45° |
Jen et al. [8] (2002) | NR | ET (33%) | Absence | Normal | NR | Moderate scoliosis |
Pieh et al. [12] (2002) | 20/30 | NR | Absence | Normal | BH and MO | NR |
Lo et al. [19] (2004) | NR | Right ET | Palsy | Limited | BH and MO | Cobb’s angle 12° |
Rossi et al. [27] (2004) | NR | NR | Absence | Normal | BH and MO | Severe scoliosis |
Incecik et al. [20] (2005) | 20/30 | Normal | Restricted | Normal | NB and MM | Thoracolumbar scoliosis |
Chan et al. [21] (2006) | 20/40 | 15 ∆ ET | Absence | Normal | BH and MO | Profound scoliosis |
Dos Santos et al. [28] (2006) | NR | Normal | Absence | Normal | BH and MO | Thoracolumbar scoliosis |
Haller et al. [29] (2008) | NR | NR | Absence | Normal | BH and MO | Cobb´s angle 20° |
Abu-Amero et al. [37] (2009) | NR | NR | Absence | Normal | BH | Left concave |
Amouri et al. [4] (2009) | NR | NR | Absence | Normal | BH and MO | Thoracolumbar scoliosis |
Bomfim et al. [30] (2009) | NR | NR | Absence | Normal | BH and MO | Mild thoracolumbar scoliosis |
Avadhani et al. [31] (2010) | NR | NR | Absence | Normal | BH and MO | Cobb´s angle 32° and 63° |
Abu-Amero et al. [32] (2011) | 20/25 | Mild ET | Absence | Normal | BH and MO | Kyphoscoliosis |
Abu-Amero et al. [14] (2011) | NR | Mild left hypertropia | Absence | Normal | BH and MO | Concave 125° thoracolumbar kyphoscoliosis |
Jain et al. [23] (2011) | 20/32 | 25 ∆ ET | Absence | Normal | BH | Left kyphosis |
Ng et al. [11] (2011) | NR | NR | Absence | Normal | BH and MO | NR |
Volk et al. [33] (2011) | 20/32 | −10° XT | Absence | Normal | BH | Cobb’s angle 30° |
Bakbak and Kansu [24] (2012) | 20/35 | NR | Absence | Normal | BH and MO | Moderate scoliosis |
Kurian et al. [25] (2013) | NR | Left Tropia | Absence | Normal | BH and MO | Cobb’s angle 125° |
Pina et al. [34] (2014) | 20/80 | Orthotropic | Palsy | NR | BH and AFC | Dorsal thoracolumbar scoliosis with torticollis over the left shoulder |
Bozdoğan et al. [35] (2017) | 20/32 | Over 40 ∆ XT | Limited | Normal | BH and MO | Severe thoracic scoliosis |
Mendes Marques et al. [26] (2017) | Normal | Orthophoria | Palsy | Normal | BH | Thoracolumbar scoliosis |
Lin et al. [36] (2018) | Normal | NR | Palsy | Normal | BH and MO | Scoliosis thoracic and lumbar spine |
Rousan et al. [3] (2019) | NR | Left hypertropia | Limited abduction | Normal | BH | Severe thoracic scoliosis |
Nucleotide Change | Exon | Amino Acid Change | Domain | Ethnicity | Reference |
---|---|---|---|---|---|
c.14T > C | 1 | L5P | Nter | Italian | Jen et al., [7] 2004 |
c.2_16 delTGCTGCGCTACCTGC | 1 | Saudi | Abu-Amero et al., [32] 2011 | ||
IV55-5delCATAG | 2 | Cape Verde | Mendes Marques et al., [26] 2017 | ||
c.196A > C | 2 | I66L | Ig1 | Greek | Jen et al., [7] 2004 |
c.271C > T | 2 | P91S | Ig1 | Sudanese | Abu-Amero et al., [37] 2009 |
c.335G > C | 2 | R112P | Ig1 | Saudi | Abu-Amero et al., [37] 2009 |
c.283T > C | 2 | I95T | Ig1 | Tunisian | Amouri et al., [4] 2009 |
c.416G > T | 2 | G139V | Ig1 | Switzerland | Hackenberg et al., [44] 2016 |
c.571delC | 2 | frameshift | Ig2 | Saudi | Abu-Amero et al., [37] 2009 |
c.530dlT | 3 | Va1177Glyfs * 45 frameshift | Ig2 | Jordanian | Rousan et al., [3] 2019 |
c.541dup | 3 | E181GfsX71 | Ig2 | Kosovar | Kurian et al., [25] 2013 |
c.733C > T | 4 | R245W | Ig2–3 | Irish/English | Chan et al., [21] 2006 |
c.733C > T | 4 | R245W | Ig2–3 | Tunisian | Amouri et al., [4] 2009, Chan 2006 [21] |
c.767_776delAGCGTCCCTC | 5 | c.767_776delAGCGTCCCTC | Ig2–3 | Portuguese | Pina et al. [34] 2014 |
c.767-2_767-1delAG | 5 | c.767-2_767-1delAG | Ig2–3 | Portuguese | Pina et al. [34] 2014 |
c.767_775delAGCGTCCCT | 5 | c.767_775delAGCGTCCCT | Ig2–3 | Cape Verde | Mendes Marques et al., [26] 2017 |
c.955G > A | 6 | E319K | Ig3 | Greek | Jen et al., [7] 2004 |
c.913delAinsTGC | 6 | I305CfsX13 | Ig3 | Caucasian/Turkish | Volk et al., [33] 2011 |
c.1082G > A | 7 | G361E | Ig4 | Indian | Jen et al., [7] 2004 |
c.1158G > C | 7 | Q386H | Ig4 | Spanish | Fernández-Vega Cueto et al., [45] 2016 |
c.1366G > T | 9 | G456X | Ig4–5 | Turkish | Jen et al., [7] 2004 |
c.1379A > G | 9 | Q460R | Ig5 | Saudi | Abu-Amero et al., [37] 2009 |
c.1450T > C | 9 | W484R | Ig5 | Tunisian | Amouri et al., [4] 2009 |
c.1433C > T | 9 | P478L | Ig5 | Italian | Ungaro et al., [46] 2018 |
c.1618delG | 10 | R539fsX574 | Fn III 1 | Tunisian | Amouri et al., [4] 2009 |
c.1726T > C | 11 | W576R | Fn III 1 | Saudi | Abu-Amero et al., [37] 2009 |
c.1886_1887delTT | 12 | frameshift | Fn III 1 | Irish/German | Chan et al., [21] 2006 |
c.1844_1845delCA | 12 | frameshift | Fn III 1 | Irish/German | Chan et al., [21] 2006 |
c.IVS13 + 1G > A | 13 | frameshift | Fn III 2 | Saudi | Jen et al., [7] 2004 |
c.2108G > C | 14 | R703P | Fn III 2 | Turkish | Jen et al., [7] 2004 |
c.2113T > C | 14 | S705P | Fn III 2 | Saudi | Jen et al., [7] 2004 |
c.2310 + 1C | 15 | frameshift | Fn III 3 | Pakistani | Jen et al., [7] 2004 |
c.2317C > T | 15 | Q773X | Fn III 3 | Irish/English | Chan et al., [21] 2006 |
c.2312C > T | 15 | P771L | Fn III 3 | Saudi | Khan et al., [47] 2008 |
c.2392C > T | 15 | Q798X | Fn III 3 | Japanese | Yamada et al., [48] 2015 |
c.2576del | 16 | P859fs | Fn III 3 | Austrian | Arlt et al., [49] 2015 |
c.2524C > T | 16 | R842X | Fn III 3 | Turkish | Bozdoğan et al., [35] 2017 |
G > T * | 17 | ^E-X | TM | Indian | Ng et al., [11] 2011 |
c.2663T > C | 17 | L888P | TM | Saudi | Khan and Abu-Amero, [50] 2014 |
c.2769_2779del11 | 17 | Splicing defect + frameshift | TM-CC0 | Caucasian/Turkish | Volk et al., [33] 2011 |
2779+1_+20del20 | 17 | Splicing defect + frameshift | TM-CC0 | Caucasian/Turkish | Volk et al., [33] 2011 |
c.3319A > C | 22 | skip + frameshift | CC2-CC3 | Caucasian/Turkish | Volk et al., [33] 2011 |
c.3321-G > A | 22 | int 22 Splice site mut | CC2-CC3 | Italian | Ungaro et al., [46] 2018 |
c.3325 + 1G | 23 | frameshift | CC2-CC | Saudi | Jen et al., [7] 2004 |
c.3742C > T | 25 | (Arg1248 *) nonsense | CC3 | Jordanian | Rousan et al., [3] 2019 |
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Pinero-Pinto, E.; Pérez-Cabezas, V.; Tous-Rivera, C.; Sánchez-González, J.-M.; Ruiz-Molinero, C.; Jiménez-Rejano, J.-J.; Benítez-Lugo, M.-L.; Sánchez-González, M.C. Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. Int. J. Environ. Res. Public Health 2020, 17, 4467. https://doi.org/10.3390/ijerph17124467
Pinero-Pinto E, Pérez-Cabezas V, Tous-Rivera C, Sánchez-González J-M, Ruiz-Molinero C, Jiménez-Rejano J-J, Benítez-Lugo M-L, Sánchez-González MC. Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. International Journal of Environmental Research and Public Health. 2020; 17(12):4467. https://doi.org/10.3390/ijerph17124467
Chicago/Turabian StylePinero-Pinto, Elena, Verónica Pérez-Cabezas, Cristina Tous-Rivera, José-María Sánchez-González, Carmen Ruiz-Molinero, José-Jesús Jiménez-Rejano, María-Luisa Benítez-Lugo, and María Carmen Sánchez-González. 2020. "Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review" International Journal of Environmental Research and Public Health 17, no. 12: 4467. https://doi.org/10.3390/ijerph17124467