A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.

ABSTRACT:

Background

Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, neutropenia and a friendly character. It is associated with mutations of the vacuolar protein sorting 13 homolog B (VPS13B) gene, which is involved in the development of the ocular, hematological and central nervous systems. This gene encodes a transmembrane protein playing a crucial role in preserving the integrity of the Golgi complex. To date, more than 150 mutations of VPS13B have been reported in over 200 Cohen syndrome patients. Missense or nonsense mutations are the most common mutations.

Case presentation

A 4-year-old gir

SUBMITTER: Momtazmanesh S 

PROVIDER: S-EPMC7325105 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature