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Review
. 2018 Sep 18;10(9):e3330.
doi: 10.7759/cureus.3330.

Cohen Syndrome: Review of the Literature

Jonathan M Rodrigues  1 , Hermina D Fernandes  1 , Carrie Caruthers  2 , Stephen R Braddock  3 , Alan P Knutsen  3
Affiliations
Review

Cohen Syndrome: Review of the Literature

Jonathan M Rodrigues et al. Cureus. .

Abstract

Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, was later described as a feature of Cohen syndrome. Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.

Keywords: coh1; cohen syndrome; hypotonia; mishosseini-holmes-walton syndrome; myopia; severe congenital neutropenia; vps13b.

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Conflict of interest statement

The authors have declared that no competing interests exist.

References

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