Table 2.
AHDC1 variants in patients with Xia‐Gibbs syndrome
| Nucleotide change | Protein change | Gender | Age | Short stature (15/26, 57.7%) | Motor delay (28/28, 100%) | Speech delay (28/28, 100%) | Hypotonia (25/28, 89.3%) | Sleep apnea (9/24, 37.5%) | Brain abnormality (19/29, 65.5%) | Reference | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1. | C.784C>T | p.Gln262* | F | 6 yr | + | + | + | + | − | − | Jiang et al. (2018) |
| 2. | c.1122dupC | p.G375Rfs* 3 | F | 4 yr | − | + | + | + | unknown | + | Yang et al. (2015) |
| 3. | c.1402dupT | p.Cys468Leufs*49 | F | 22 yr | unknown | + | + | unknown | unknown | + | Bosch et al. (2016) |
| 4. | c.1480A>T | p.K494X | F | 16 yr | + | + | + | − | unknown | + | Yang et al. (2015) |
| 5. | c.1881delG | p.Q627Hfs*105 | M | 5 yr | − | unknown | unknown | + | unknown | − | Yang et al. (2015) |
| 6. | c.1945delG | p.Ala649Profs*83 | M | 2 yr | + | + | + | + | + | − | Yang et al. (2015) |
| 7. | c.2030–2030del | p.G677Afs*55 | F | 8 yr | unknown | + | + | + | + | + | García‐Acero and Acosta (2017) |
| 8. | c.2062C>T | p.Arg688* | F | 20 yr | − | + | + | − | − | + | Jiang et al. (2018) |
| 9. | c.2229delG | p.Ser744Profs*188 | M | 13 yr | + | + | + | + | + | − | Jiang et al. (2018) |
| 10. | c.2373_2374delTG | p.Cys791Trpfs*57 | F | 18mo | + | + | + | + | + | + | Xia et al. (2014) |
| M | 8 yr | − | + | + | + | + | + | Xia et al. (2014) | |||
| M | 5 yr | − | + | + | + | unknown | + | Yang et al. (2015) | |||
| M | 21 yr | + | + | + | + | + | + | Jiang et al. (2018) | |||
| M | 4 yr | + | + | + | + | − | + | Present case | |||
| 11. | c.2415delG | p.Leu806Trpfs*126 | F | 6 yr | − | − | + | + | − | − | Jiang et al. (2018) |
| 12. | c.2520delT | p.Arg841Alafs*91 | M | 9 yr | − | + | + | + | − | + | Jiang et al. (2018) |
| 13. | c.2529_2545del17 | p.D845Rfs*40 | F | 7 yr | − | + | + | + | − | + | Yang et al. (2015) |
| 14. | c.2547delC | p.Ser850Profs*82) | M | 11 yr | + | + | + | + | − | + | Xia et al. (2014) |
| 15. | c.2644C>T | p.Gln882* | M | 10 yr | + | + | + | + | − | + | Jiang et al. (2018) |
| 16. | c.2691delA | p.Val898Trpfs*34 | F | 4 yr | + | + | + | + | − | + | Jiang et al. (2018) |
| 17. | c.2773C>T | p.Arg925* | F | 6 yr | − | + | + | + | − | + | Jiang et al. (2018) |
| M | 3 yr | + | + | + | + | + | − | Jiang et al. (2018) | |||
| 18. | c.2898delC | p.Tyr967Thrfs*175 | F | 4 yr | + | + | + | + | + | + | Xia et al. (2014) |
| 19. | c.2908C>T | p.Gln970* | F | 11 yr | unknown | + | + | + | − | − | Jiang et al. (2018) |
| F | 6 yr | − | + | + | + | − | − | Jiang et al. (2018) | |||
| 20. | c.3773C>G | p.Ser1258* | M | 2 yr | + | + | + | − | + | + | Jiang et al. (2018) |
| 21. | c.3809delA | p.Gln1270Argfs*75 | M | 9 yr | − | + | + | + | unknown | + | Yang et al. (2015) |
| 22. | c.3989C>A | p.Ser1330* | M | 17 yr | + | + | + | + | − | − | Jiang et al. (2018) |
| 23. | c.2889_2892delTGCC | p.A964fs*177 | M | 8 yr | + | + | + | + | − | + | Present case |