Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion
Figure 4
Body mass index (BMI) analysis of SMS patients.
Comparison of BMI (kg/m2) for common 17p11.2 deletion cases (n = 49), and cases with de novo (n = 5, including unclassified variant M2543) or familial (n = 5) RAI1 variants. (A) The mean BMI for each subgroup. The value for the de novo RAI1 group was calculated with and without the outlier unclassified case (M2543) who carried an RAI1 missense variant. (B) Frequency of body description type (normal, overweight, or obese) based on BMI values considering age (as plotted in (C)) and gender. Interpretation of BMI levels for age 2–20 years: underweight, <5th percentile; normal range, 5th–85th percentile; overweight, 85th–95th percentile; and obese, >95th percentile. For adults: underweight, BMI below 18.5; normal range, BMI 18.5–24.9; overweight, BMI 25–29.9; and obese, BMI 30 and over. (C) Comparison of BMI by age for subjects 2–20 years of age. BMI percentile curves (5th, 85th and 95th) for ages 2–20 years were extracted from growth data from the Centers for Disease Control and Prevention. BMI values are not plotted for 6 subjects over age 20 years; 3 with common deletions and 3 without deletions or RAI1 mutations (their values are displayed in upper left of the figure).