Phenotypic features of SMS patients with RAI1 mutations compared to those with 17p11.2 deletions
| Common features | Mutation identified | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| del(17)(p11.2) (%)* | Slager et al (2003)14 | Bi et al (2004)17 | SMS153 | SMS188 | SMS195 | SMS175 | Total | Common features (%) | |
| RAI1 mutations | RAI1 mutations | 253del 19 bp | 3801delC | Ser1808Asn | Gln1562Arg | RAI1 mutations | |||
| *Percentages are based on the following references: Smith et al 1998,4 Dykens et al 1998,7 Smith et al 2002,8 Greenberg et al 1991,9 Chen et al 1996,18 Greenberg et al 1996,19 Finucane et al 1994,20 and the Smith-Magenis syndrome GeneReview 2003 (www.geneclinics.org). | |||||||||
| †Smith and Gropman, 2005.21 | |||||||||
| ‡Finucane et al, 2001.22 | |||||||||
| +, Presence of clinical feature; –, absence of clinical feature; N, information is not available or child too young to evaluate. | |||||||||
| Craniofacial/skeletal | |||||||||
| Brachycephaly | 89 | 3/3 | 1/2 | + | + | + | + | 8/9 | 89 |
| Midface hypoplasia | 93 | 0/3 | 2/2 | + | + | + | + | 6/9 | 67 |
| Prognathism (relative to age) | 52 | 3/3 | 1/2 | + | + | N | N | 6/7 | 86 |
| Tented upper lip | 73 | 3/3 | 2/2 | + | + | − | + | 8/9 | 89 |
| Broad, square face | 81 | 2/3 | 2/2 | + | + | + | + | 8/9 | 89 |
| Synophrys | 62 | 2/3 | N | − | + | − | − | 3/7 | 43 |
| Cleft lip/palate | 9 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
| Brachydactyly | 85 | 1/3 | 2/2 | + | + | + | + | 7/9 | 78 |
| Short stature (<5th centile) | 69 | 0/3 | 0/2 | − | − | + | − | 1/9 | 11 |
| Scoliosis† | 49–67 | 2/3 | 2/2 | N | − | − | − | 4/8 | 50 |
| Otolaryngologic abnormalities | |||||||||
| Chronic ear infections | 85 | 2/3 | 1/2 | + | − | − | − | 4/9 | 44 |
| Hearing loss | 68 | 1/3 | 0/2 | − | − | − | − | 1/9 | 11 |
| Hoarse, deep voice | 80 | 2/3 | N | + | + | + | + | 6/7 | 86 |
| Neurological/behavioural | |||||||||
| Variable mental retardation | 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
| Speech delay† | >90 | 1/3 | N | + | − | + | + | 4/7 | 57 |
| Motor delay† | >90 | 1/3 | N | + | + | + | − | 4/7 | 57 |
| Hypotonia | >90 | 1/3 | N | + | − | + | + | 4/7 | 57 |
| Seizures by history | 11 to 30 | 1/3 | 0/2 | − | − | − | + | 2/9 | 22 |
| Sleep disturbance | 70 to 100 | 3/3 | 2/2 | + | + | + | + | 7/7 | 100 |
| Self hugging/hand wringing‡ | 70 to 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
| Attention seeking | 80 to 100 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
| Self injurious behaviours‡ | 78 to 96 | 3/3 | 2/2 | + | + | + | + | 9/9 | 100 |
| Onychotillomania | 25 to 85 | 3/3 | N | + | + | − | + | 6/7 | 86 |
| Polyembolokoilomania | 25 to 85 | 3/3 | N | + | + | + | + | 7/7 | 100 |
| Head banging/face slapping | 71 | 2/3 | N | − | + | + | + | 5/7 | 72 |
| Hand biting/self biting | 77 | 2/3 | N | − | + | + | + | 5/7 | 72 |
| Ocular abnormalities | |||||||||
| Myopia | 53 | 2/3 | 1/2 | + | + | + | − | 6/9 | 67 |
| Strabismus | 50 | 2/3 | 1/2 | − | + | − | − | 4/9 | 44 |
| Iris abnormalities | 64 | 0/3 | 0/2 | − | − | + | − | 1/9 | 11 |
| Other features | |||||||||
| Raised cholesterol | >50 | 3/3 | 0/2 | − | N | + | − | 4/8 | 50 |
| Structural cardiovascular anomaly | 30 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
| Structural renal anomaly | 30 | 0/3 | 0/2 | − | − | − | − | 0/9 | 0 |
| Sex | Female | Male | Male | Female | |||||
| Age at evaluation (years) | 14 to 19 | 4 to 14 | 14 to 17 | 11 | |||||