Figure 1.

Diagram of TBCK with Reported Variants and Facial Features and Brain Imaging of Affected Individuals

(A) A diagram of TBCK includes known domains and the variants present in the individuals described in this report. Abbreviations are as follows: Hom, homozygous; and Comp Het, compound heterozygous.

(B–D and G–I) Facial features of individuals 8-1 (B) and 2-1 (G), affected siblings 4-1 (C) and 4-2 (H), and affected siblings 6-1 (D) and 6-2 (I). Individuals 8-1 and 2-1 have coarse features with significant macroglossia, and individuals 4-1 and 4-2 have no significant facial dysmorphisms. Note the mild dysmorphic features, including a wide forehead, bulbous nose, open mouth with macroglossia, thick lips, deep palate, and prognathic mandible, in individual 6-1 and the wide forehead and short neck in individual 6-2.

(E, F, and I–K) Brain MRI of individuals 6-1 (E), 6-2 (J), and 7-1 (F and K) demonstrates discrete abnormalities of the periventricular and parietal white matter in both studies.