Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome

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 thr...

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Bibliographic Details
Published in:Journal of molecular neuroscience 2020, Vol.70 (1), p.21-25
Main Authors: Alipour, Nasrin, Salehpour, Shadab, Tonekaboni, Seyed Hasan, Rostami, Masoumeh, Bahari, Soraya, Yassaee, Vahidreza, Miryounesi, Mohammad, Ghafouri-Fard, Soudeh
Format: Article
Language:English
Subjects:
Adolescent
Biomedical and Life Sciences
Biomedicine
Cell Biology
Delay
Developmental Disabilities - genetics
Developmental Disabilities - pathology
Exome
Fingers - abnormalities
Fingers - pathology
Gene sequencing
Genetic counseling
Humans
Hypotonia
Infant
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
Microcephaly - genetics
Microcephaly - pathology
Muscle Hypotonia - genetics
Muscle Hypotonia - pathology
Mutation
Myopia - genetics
Myopia - pathology
Neurochemistry
Neurology
Neurosciences
Obesity - genetics
Obesity - pathology
Pedigree
Phenotype
Proteomics
Retinal Degeneration - genetics
Retinal Degeneration - pathology
Vesicular Transport Proteins - genetics
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Summary: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.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-019-01394-w