TABLE 1.
Detailed patient phenotypes
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | Summary |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Referencea | #1 (Patient 1) | #2 (Patient 5) | #2 (Patient 1) | #1 (Patient 3) | #1 (Patient 2) | #2 (Patient 6) | |||||||||||||||
| Mutation | |||||||||||||||||||||
| Nucleotide change | c.2373_2374delTG | c.3809delA | c.2644C>T | c.2520delT | c.2773C>T | c.2229delG | c.l945delG | c.2062C>T | c.2908C>T | c.2373_2374delTG | c.2691delA | c.2908C>T | c.784C>T | c.3989C>A | c.2415delG | c.2898delC | c.2773C>T | c.2373_2374delTG | c.2373_2374delTG | c.3773C>G | |
| Protein change | p.Cys791Trpfs*57 | p.Glnl270Argfs*75 | p.Gln882* | p.Arg841Alafs*91 | p.Ser744Profs*188 | p.Arg925* | p.Ala649Profs*83 | p.Arg688* | p.Gln970* | p.Cys791Trpfs*57 | p.Va!898Trpfs*34 p.Gln970* | p.Gln262* | p.Serl330' | p.Leu806Trpfs*126 | p.Tyr967Thrfs*175 | p.Arg925* | p.Cys791Trpfs*57 | p.Cys791Trpfs*57 | p.Serl258* | ||
| Age | 5 years | 12 years | 10 years | 9 years | 13 years | 3 years | 4 years | 20 years | 6 years | 12 years | 4 years | 11 years | 6 years | 17 years | 6 years | 8 years | 6 years | 8 years | 21 years | 2 years | 8 years (2~21 years) |
| Gender | F | M | M | M | M | M | M | F | F | M | F | F | F | M | F | F | F | M | M | M | Female 9 (45%) |
| Ethnicity | White | White/Asian | White | White | White | White | White | White | White | White | White | White | White | White | White | Asian | White | White | White | White | White 18 (90%) |
| Growth | |||||||||||||||||||||
| Height | 0.05 | 0.01 | 0.05 | 0.15 | 0.03 | <0.01 | <0.01 | >0.99 | (0.05, 0.15) | 0.05 | <0.01 | NA | 0.05 | <0.01 | (0.25,0.5) | <0.01 | (0.15,0.25) | 0.15 | <0.01 | 0.01 | |
| Scoliosis | N | N | Y | N | Y | N | N | Y | N | N | N | N | N | N | N | N | N | Y | N | 4 (20%) | |
| Language | |||||||||||||||||||||
| M-CHAT score | 12 | 6 | 9 | 13 | 10 | 5 | 9 | 10 | 1 | 2 | 0 | 9 | 1 | 14 | 0 | 4 | 8 | 4 | 10 | 13 | 8.5 (0~14) |
| Prior autism diagnosis | Y | N | Y | N | N | N | Y | Y | N | N | N | N | Y | N | N | N | N | N | N | 5 (25%) | |
| Current languageb | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 3 | 3 | 1 | 3 | 3 | 0 | 3 | 1 | 1 | 3 | 2 | 0 | 1 (0—3) |
| Age at first word | 4 years | NA | NA | NA | NA | NA | NA | 5 years | 2.5 years | 12 months | 2.5 years | 2 years | 4 years | NA | Around 3 years | UKN | Around 2.5–3 years 2 years | 5 years | NA | 2.75 years (1~5 years) |
|
| Age, two words together | NA | NA | NA | NA | NA | NA | NA | 6 years | 3.5 years | 24 months | 3.5 years | 3 years | 5 years | NA | 3 years | 4 years | NA | 2 years | 7 years | NA | 3.5 years (2~7 years) |
| Age following command | 2 years | 8 years | 8 years | NA | 4 years | 23 months | 3 years 9 months | 4 years | 3–4 years | 18 months | 2 years | 6 years | 5 years | 5 years | 2 years | 6 years | 3 years | 4 years | 3 years | NA | 3.875 (1.5~8 years) |
| Mobility | |||||||||||||||||||||
| Hypotonia diagnosis | Y | Y | Y | Y | Y | Y | Y | N | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | N | 18 (90%) |
| Independent walking | Y | Y | Y | N | Y | N | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | N | N | 16 (80%) |
| Age independent walking | 3 years | 6 years | 3 years | NA | 3 years | NA | 3 years 5 months | 22 months | 2.5 years | 18 months | 2.5 years | 2 years | 3 years | 19 months | 2 years | 2 years | 2 years 4 months 4 years | NA | NA | 2.5 years (1.5~6 years) |
|
| Sleep/airway | |||||||||||||||||||||
| Sleep apnea | Y | N | N | N | Y | Y | Y | N | N | Y | N | N | N | N | N | Y | N | Y | Y | Y | 9 (45%) |
| Breathing support | Y | N | N | N | N | N | N | N | N | Y | N | N | N | N | N | N | N | N | Y | N | 3 (15%) |
| Neuro | |||||||||||||||||||||
| MRI | Abnormal | Abnormal | Abnormal | Abnormal | Normal | Normal | Abnormal | Abnormal | Normal | Abnormal | Abnormal | Normal | Normal | Normal | Normal | Normal | Abnormal | Abnormal | Abnormal | Abnormal | 1 12 (60%) |
| EEG | Normal | NA | Normal | Normal | NA | Normal | NA | Normal | Normal | Abnormal | Normal | Normal | Normal | NA | Normal | Abnormal | NA | Abnormal | Abnormal | Normal | 4 (20%) |
| Seizure | N | N | Y | N | N | N | N | Y | N | Y | N | N | N | N | Y | N | N | Y | Y | N | 6 (30%) |
| Age at first seizure | 9 years | 9 months | 3 years | 2 years | 5 years | 12 years | 4 years (9 months~12 years) |
||||||||||||||
| Ataxia | Y | Y | N | Y | N | N | Y | Y | Y | Y | Y | Y | N | N | Y | N | Y | Y | Y | N | 13(65%) |
| Vision | |||||||||||||||||||||
| Glasses/contacts | Y | No | N | Y | N | N | Y | Y | N | N | N | N | Y | N | N | N | Y | N | N | N | 6 (30%) |
| Vision | N.asc. | N.asc. | N.asc. | Mild myopia | N.asc. | N.asc. | Slight astig. | N.asc. | N.asc. | Prismatic lenses | NA | Sunglasses 40/70 | 20/20 | 100% | NA | 6/9.5 | NA | NA | |||
| Strabismus | Y | N | Y | N | N | Y | N | N | Y | N | Y | N | Y | N | N | N | Y | N | Y | N | 8 (40%) |
| Dysmorphic features | |||||||||||||||||||||
| Small ear lobes | N | NA | Y | N | N | N | N | N | N | Y | NA | NA | N | NA | Y | N | N | N | N | NA | |
| Upturned earlobes | N | NA | N | Y | N | N | Y | N | N | N | NA | NA | Y | NA | N | Y | N | N | N | NA | |
| Low-set ears | N | NA | N | Y | N | N | N | Y | N | N | NA | NA | Y | NA | N | N | N | N | N | NA | |
| Protuberant ears | N | NA | Y | N | N | N | N | N | Y | Y | NA | NA | N | NA | N | Y | N | N | N | NA | |
| Deep-set eyes | N | NA | N | N | Y | Y | N | Y | N | Y | NA | NA | N | NA | N | N | N | N | N | NA | |
| Upslanting palpebral fissures | N | NA | N | Y | N | N | N | N | Y | N | NA | NA | Y | NA | N | N | N | N | N | NA | |
| Downslanting palpebral fissure | N | NA | N | N | Y | N | Y | N | N | N | NA | NA | N | NA | N | N | N | N | N | NA | |
| Mild ptosis | N | NA | N | Y | N | Y | N | N | N | N | NA | NA | Y | NA | N | Y | N | N | Y | NA | |
| Esotropia | N | NA | N | Y | N | Y | N | N | Y | N | NA | NA | Y | NA | N | N | N | N | N | NA | |
| Hypertelorism | N | NA | Y | N | N | N | Y | Y | Y | N | NA | NA | Y | NA | N | N | Y | N | Y | NA | |
| Flat nasal bridge | Y | NA | Y | Y | N | Y | Y | N | Y | N | NA | NA | N | NA | N | N | N | N | Y | NA | |
| Micrognathia | N | NA | N | N | N | Y | N | N | N | N | NA | NA | N | NA | N | N | N | N | Y | NA | |
| Thin upper lip | Y | NA | Y | Y | Y | Y | Y | Y | Y | Y | NA | NA | Y | NA | Y | Y | Y | N | Y | NA | |
| Broad forehead | Y | NA | N | Y | N | Y | Y | Y | Y | N | NA | NA | Y | NA | Y | N | Y | N | Y | NA | |
Height was shown in percentage (WHO child growth standards 2–5 years http://www.who.int/childgrowth/standards/height_for_age/en/ and WHO growth references for 5–19 years http://www.who.int/growthref/en/, percentage for two adult patients are assessed as 19 year olds).
a
References: 1, Xia et al. (2014); 2, Yang et al. (2015).
b
Language: 0. No words 1. < 50 words; 2. no sentence but >50 words; 3. full sentence > 200 words.