Table 2

 Phenotypic features of SMS patients with RAI1 mutations compared to those with 17p11.2 deletions

Common featuresMutation identified
del(17)(p11.2) (%)*Slager et al (2003)14Bi et al (2004)17SMS153SMS188SMS195SMS175TotalCommon features (%)
RAI1 mutationsRAI1 mutations253del 19 bp3801delCSer1808AsnGln1562ArgRAI1 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 (
†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.
    Midface hypoplasia930/32/2++++6/967
    Prognathism (relative to age)523/31/2++NN6/786
    Tented upper lip733/32/2+++8/989
    Broad, square face812/32/2++++8/989
    Cleft lip/palate90/30/20/90
    Short stature (<5th centile)690/30/2+1/911
Otolaryngologic abnormalities
    Chronic ear infections852/31/2+4/944
    Hearing loss681/30/21/911
    Hoarse, deep voice802/3N++++6/786
    Variable mental retardation1003/32/2++++9/9100
    Speech delay†>901/3N+++4/757
    Motor delay†>901/3N+++4/757
    Seizures by history11 to 301/30/2+2/922
    Sleep disturbance70 to 1003/32/2++++7/7100
    Self hugging/hand wringing‡70 to 1003/32/2++++9/9100
    Attention seeking80 to 1003/32/2++++9/9100
    Self injurious behaviours‡78 to 963/32/2++++9/9100
    Onychotillomania25 to 853/3N+++6/786
    Polyembolokoilomania25 to 853/3N++++7/7100
    Head banging/face slapping712/3N+++5/772
    Hand biting/self biting772/3N+++5/772
Ocular abnormalities
    Iris abnormalities640/30/2+1/911
Other features
    Raised cholesterol>503/30/2N+4/850
    Structural cardiovascular anomaly300/30/20/90
    Structural renal anomaly300/30/20/90
Age at evaluation (years)14 to 194 to 1414 to 1711