Comparison of findings in families with missense mutations and duplications of HUWE1*
| Juberg and Marsidi7 | Brooks et al10 | Family 3 | Froyen et al22 | Isrie et al24 | Mattei et al9 | ||||
|---|---|---|---|---|---|---|---|---|---|
| K9149 | K9223 | A323 | UK444 | UK106 | Dup HUWE1 | ATRX mutation | |||
| Affected individuals | 4M | 3M | 2M | 4M | 3M | 3M | 24M | 2M | 7M |
| Mutation | p.G4310R | p.G4310R | p.R4063Q | p.R4013W | p.R4187C | p.R2981H | Dup | p.R4013W | p.R1272Q |
| Low birth weight (<3c) | 4/4 | 3/3 | 2/2 | 0/1 | – | – | 0/12 | – | 2/2 |
| Low birth length (<3c) | 4/4 | – | 2/2 | – | – | – | 0/1 | – | 1/2 |
| Short stature (<3c) | 4/4 | 3/3 | 2/2 | – | 1/1 | – | 0/19 | 0/2 | – |
| Microcephaly (<3c) | 4/4 | 3/3 | 2/2 | 0/4 | 0/1 | 0/1 | 1/19 | 0/2 | 1/2 |
| Macrocephaly (>97c) | 0/4 | 0/3 | 0/2 | 2/4 | 0/1 | 0/1 | 0/19 | 0/2 | 0/2 |
| Strabismus | 2/3 | 2/3 | – | – | 1/1 | – | 1/11 | 0/2 | – |
| Epicanthus | 2/2 | 3/3 | – | – | – | – | 3/8 | 0/2 | 1/1 |
| Deep-set eyes | 1/1 | 3/3 | 2/2 | – | – | – | 0/8 | 1/2 | – |
| Blepharophimosis/small pf | 4/4 | 3/3 | – | – | – | – | 3/8 | 0/2 | 1/1 |
| Cupped ears | 1/3 | 2/3 | 2/2 | 0/4 | – | 1/2 | 3/8 | 0/2 | 0/1 |
| Prominent nose | 1/3 | 3/3 | 2/2 | 0/3 | – | – | 3/8 | 0/2 | 0/1 |
| Thin lip(s) | 2/3 | 3/3 | 2/2 | 1/3 | – | – | 0/9 | – | 0/1 |
| Undescended testes | 4/4 | – | 0/2 | 0/1 | – | – | 0/8 | – | 2/3 |
| Deafness | 4/4 | 1/3 | 0/2 | 1/4 | – | – | 0/20 | – | 1/3 |
| Seizures | 1/4 | 0/3 | 0/2 | 0/4 | – | – | 0/8 | – | – |
| Hypotonia | 1/4 | 0/3 | 0/2 | 1/1 | – | – | 5/11 | – | 1/1 |
| Severe ID (IQ<50) | 4/4 | 3/3 | 2/2 | 4/4 | – | – | 12/17 | 2/2 | 3/3 |
| Absent/limited speech | 3/3 | 3/3 | 1/2 | 1/3 | 0/1 | 2/2 | 5/8 | – | – |
| Other findings | Bifrontal narrowing, hypotelorism, contractures | Bifrontal narrowing, short philtrum, contractures, clumsiness | Contractures | Tapered fingers | Clumsiness | Contractures | Hypertelorism, down-slanting palpebral fissures | Non-attentive gaze, GI disturbances | |
*The de novo p.V950A mutation in one of two brothers with autism reported by Nava et al25 is not included because of lack of clinical details.
<3c, less than 3rd centile; >97c, greater than 97th centile; dash (–), indicates information not available; GI, gastrointestinal; pf, palpebral fissures.