Mutations in the Vps13b Gene in Iranian Patients With Different Phenotypes of Cohen Syndrome Publisher Pubmed



Alipour N¹ ; Salehpour S² ; Tonekaboni SH³ ; Rostami M¹ ; Bahari S¹ ; Yassaee V¹ ; Miryounesi M^{1, 4} ; Ghafourifard S⁴
Source: Journal of Molecular Neuroscience Published:2020

Abstract

Cohen syndrome is a rare autosomal recessive disorder characterized by hypotonia, obesity, developmental delay, mental retardation, and facial, oral, ophthalmic, and limb deformities. Mutations in VPS13B have been found to be responsible for this disorder. In the current report, we have assessed three Iranian families with developmental delay and skeletal deformities. Whole exome sequencing of the affected probands led to identification of the underlying genetic cause in these families. Three mutations were found in VPS13B gene. The detected mutations were c.4608_4609del (p.E1537Rfs*7), c.11486dupG (p.L3830Tfs*13), and c.10360dupC (p.L3454fs*7). The current study broadens the mutation spectrum of VPS13B gene and demonstrates different phenotypic features from classic Cohen syndrome. Moreover, the provided data can be used in genetic counseling and prenatal diagnosis of Iranian patients. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.