Table 2 Clinical features of patients included in this review. Distribution of BCL11B-truncating and missesense variants.

From: Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective

Phenotype

Individuals with truncating mutations

(N = 24)

Individuals with missense mutations

(N = 38)

Neurological disorders with or without immunological defects

18/24 (75%)

10/38 (26%)

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities

4/24 (17%)

3/38 (8%)

Isolated neurodevelopmental delay

1/24 (15%)

0

Neurodevelopmental disorder with craniosynostosis

1/24 (4%)

5/38 (13%)

Neurodevelopmental disorder with defects of immunotolerance

7/24 (29%)

3/38 (8%)

Neurodevelopmental disorder with facial dysmorphism without immunological features

4/24 (17%)

6/38 (16%)

T-ALL

6/24 (25%)

28/38 (74%)

  1. The possible phenotypes resulting from BCL11B defects are divided into two large groups: neurological disorders with or without immunological defects and T-ALL (bold). Neurological disorders with or without immunological defects are further broken into five categories (rows 3–7). Whitin each group of clinical disorder a further division has been stablished according to the number of individuals with truncating mutations (second column) or missense mutations (third column).
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