Fig. 4: Physical features of individuals with BCL11A-IDD in the present cohort. | European Journal of Human Genetics

Fig. 4: Physical features of individuals with BCL11A-IDD in the present cohort.

From: BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Fig. 4

A Facial features of selected individuals with BCL11A pathogenic variants, grouped according to variant class (see methods). Patient number is indicated in the bottom right of each image. Approximate ages at time of photographs (y, years; m, months): P1, 42 y; P9, 3y2m; P19, 16 y; P26, 4y6m; P32, 18 y; P36, 11y2m (left), 12y10m (right); P37, 16 y; P41 3y3m (left), 7y8m (right). Additional photographs of the face (profile) and limbs are available in Supplementary Fig. 2. PTV: Protein Truncating Variants (PTVa, type a; PTVb: type b); MISS: missense variants; CNV: Copy Number Variants. No photographs are available for patients with splice-site variants. B GestaltMatcher comparison of the distance distribution among BCL11A-IDD individuals (orange), the random selection from the subjects with 328 disorders (red), and the selection with the same disorder (blue). The black vertical line is the threshold that classifies whether it is the same disorder or random selection. 34.5% of the BCL11A distribution is below the threshold, indicating only a small portion of BCL11A individuals presenting similar facial gestalt. C Distribution of growth parameters (standard deviations, SD) of present cohort (a single value for each individual is represented); lines indicate median, upper and lower quartiles; *** unpaired t-test p = 0.0001. n = 13 HC birth; n = 35 HC; n = 34 height; n = 33 weight. D Head circumference (HC) at birth and postnatal (SD for age and sex) for individuals in present cohort and previously reported where both measurements available; n = 15 (13 PTV, 1 SPL (splice), 1 CNV); paired t-test: ***p < 0.0001. E Head circumference SDs for individuals in present cohort (PTVa, n = 11; PTVb, n = 18; MISS, n = 3); lines indicate median, upper and lower quartiles; unpaired t test: *p = 0.0083; ns not significant. F Circular bar plot representing frequencies for phenotypic features in the present cohort; bars are proportional to frequency, 25% intervals indicated by ticks. DD developmental delays, IDD intellectual developmental disorder, ASD autism spectrum disorder, abn. abnormalities, MRI magnetic resonance imaging, HbF fetal hemoglobin.

Back to article page