Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. Issue 68 (August 2018)

• Record Type: Journal Article
• Authors: Yang, Chengqing; Hou, Mei; Li, Yutang; Sun, Dianrong; Guo, Ya; Liu, Peipei; Liu, Yedan; Song, Jie; Zhang, Na; Wei, Wei; Chen, Zongbo
• Is Part Of: International journal of developmental neuroscience. Issue 68(2018:Aug.)
• Page Start: 83
• Page End: 88
• Publication Date: 2018-08
• Subjects: Rare disease -- Cohen syndrome -- Genetic diagnosis -- Rehabilitation therapy; Developmental neurobiology -- Periodicals; Neurology -- Periodicals; Neurologie du développement -- Périodiques; Developmental neurobiology; Periodicals; 612.8
• DOI: 10.1016/j.ijdevneu.2018.05.004
• Languages: English
• ISSNs: 0736-5748

Abstract

Highlights: Cohen syndrome is a rare, genetic disorder, which is caused by mutations in the gene COH1 (VPS13B) at the chromosome 8q22. We reported 4 cases diagnosed with Cohen syndrome. The mutation locations in VPS13B gene of the four cases are different from each other. Study has defined COH1 as a Golgi-enriched scaffold protein that contributes to the structural maintenance and function of the Golgi complex. Abstract: Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations. At the same time, we review the related literature, and further expound the molecular mechanism of the disease, a variety of clinical manifestations, treatment and prognosis.