DOI: 10.24075/brsmu.2017-04-06

CLINICAL CASE

Cohen syndrome in family members: a case report

Levchenko OA1, Zinchenko RA2, Lavrov AV
About authors

1 Laboratory of Mutagenesis,
Research Centre for Medical Genetics, Moscow

2 Department of Molecular and Cellular Genetics, Biomedical Faculty,
Pirogov Russian National Research Medical University, Moscow

Correspondence should be addressed: Alexander Lavrov
ul. Moskvorechie, d. 1, Moscow, Russia, 115478; moc.liamg@vorvalvrednaxela

About paper

Contribution of the authors to this work: Levchenko OA — analysis of literature, sequencing, data analysis and interpretation, drafting of a manuscript; Zinchenko RA — research planning, collection and description of clinical material, editing of a manuscript; Lavrov AV — research planning and realization, analysis of results, drafting and editing of a manuscript.

Received: 2017-08-02 Accepted: 2017-08-15
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Cohen syndrome is a rare autosomal-recessive disorder characterized by intellectual disability, myopia, hypotonia, and skeletal malformations. Its clinical diagnosis is impeded by marked inter- and intrafamilial phenotypic variability. Gene VPS13B that carries disease-associated mutations has 62 exons, making Sanger sequencing of the entire gene unsuitable for routine clinical use due to high costs. In this work we report a case of Cohen syndrome in a brother and sister born to a mixed Abazin-Circassian marriage and diagnosed with moderate mental retardation. Both patients had psychomotor retardation, were unable to study at school, and never learned to read, write and count. Although the patients shared a few nonspecific phenotypic characteristics, phenotypic differences made it impossible to arrive at a clear diagnosis. Therefore, whole exome sequencing was performed revealing the single nucleotide variant с.7603C>T that results in the premature stop codon R2535* in VPS13B. This mutation was found in the mother, the affected sibs and one of the two other healthy sibs. The second mutation remained undetected. Considering the identified mutation and the analyzed phenotypic traits, we concluded Cohen syndrome in both patients.

Keywords: intellectual disability, familial nonspecific intellectual disability, whole exome sequencing, Cohen syndrome, nonsyndromic intellectual disability

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