Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome
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Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome Nasrin Alipour 1 & Shadab Salehpour 2 & Seyed Hasan Tonekaboni 3 & Masoumeh Rostami 1 & Soraya Bahari 1 & Vahidreza Yassaee 1 & Mohammad Miryounesi 1,4 & Soudeh Ghafouri-Fard 4 Received: 1 July 2019 / Accepted: 29 July 2019 # Springer Science+Business Media, LLC, part of Springer Nature 2019
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. Keywords VPS13B . Cohen syndrome . Mutation . Mental retardation
Introduction Cohen syndrome has been recognized by M Michael Cohen and his colleagues in 1973 after detection of the first sibling cases in 1968 and subsequent identification of another patient with a similar phenotype (Cohen et al. 1973). Hypotonia, obesity, developmental delay, mental retardation, and facial, oral, ophthalmic, and limb deformities were the most prominent Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12031-019-01394-w) contains supplementary material, which is available to authorized users. * Mohammad Miryounesi [email protected] * Soudeh Ghafouri-Fard [email protected] 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2
Department of Pediatric Endocrinology & Metabolism, School of Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3
Department of Pediatric Neurology, School of Medicine, Pediatric Neurology Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
features of the affected patients (Cohen et al. 1973). Five years later, Carey et al. reported four additional patients with similar features. Their findings decisively launched the Cohen syndrome as a distinctive clinical entity with autosomal recessive inheritance (Carey and Hall 1978). Further studies have shown overrepresentation of this disorder in Finnish population and described homogenous phenotype of this disorder in this population. The phenotypic features include non-progressive psychomotor delay, motor a
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