A Novel Variant in VPS13B Underlying Cohen Syndrome

Figure 1

(a) The autosomal recessive consanguineous pedigree studied here and the segregation of the VPS13B [c.8841G > A: p.(W2947)] variant. Squares symbolize the male individuals, circles denote female individuals, and filled square and circle indicates the affected individuals. Double lines denote a consanguineous marriage, and the crossed line specifies the deceased individual. (b) Facial images of the affected individuals. All individuals shared facial dysmorphism features such as a bulbous nasal tip, a prominent nose root, a short philtrum, narrow (mouth) roof (palate), prominent upper incisors, large ears, thick eyebrows, long thick eyelashes, and wave-shaped eyelids. Eye misalignment is seen in V : 1 and VI : 2 individuals only.

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