2023
DOI: 10.1515/tnsci-2022-0304
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Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series

Li Kang,
Yixuan Ma,
Peng Zhao

Abstract: Background Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of VPS13B have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Co… Show more

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