SNP Shot: Genomic Insights

Cohen syndrome is a genetic condition impacting various bodily systems. Hallmark characteristics include delayed development, intellectual disability, a smaller than normal head (microcephaly), and low muscle tone (hypotonia). Frequently observed are worsening nearsightedness (myopia), retinal dystrophy (degeneration of the retina), excessive joint flexibility (hypermobility), and characteristic facial features. These facial features often encompass thick hair and eyebrows, long eyelashes, uniquely shaped eyes (down-slanting and wave-like), a bulbous nasal tip, a smooth or shortened philtrum (area between nose and upper lip), and prominent upper front teeth. The latter two characteristics contribute to an often open mouth appearance.

The manifestations of Cohen syndrome can differ significantly between individuals. Additional symptoms sometimes observed in those with the condition include neutropenia (low white blood cell count), an exceptionally sociable disposition, and obesity that emerges later in childhood or adolescence. This obesity, when present, is generally concentrated around the trunk, with relatively thin arms and legs (truncal obesity). Individuals with Cohen syndrome may also have slender hands and feet, and long, thin fingers.

Inheritance:

Cohen syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to manifest. Individuals with autosomal recessive conditions inherit one mutated gene copy from each parent. These parents are typically carriers of the mutated gene but do not exhibit symptoms of the condition themselves.