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Abstract

July-September 2017 | Vol. 10 | Issue 3 | Page No 3-4
A Novel Mutation in VPS13B Gene Causing Cohen Syndrome in Two Siblings
Chelna Galada, Nitika Langeh, Anju Shukla and Katta M Girisha
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
Address for Correspondence Email: girish.katta@manipal.edu
 
Abstract
Cohen syndrome is a rare disorder with facial dysmorphism, microcephaly, truncal obesity and intellectual disability. Clinical diagnosis of this syndrome is challenging due to the variability in the phenotype observed in this syndrome. We present a family with two affected siblings with microcephaly and global developmental delay. We report a novel insertion variation in VPS13B gene identified by exome sequencing. This case report expands the mutation spectrum of Cohen syndrome and highlights the utility of next generation sequencing in definitive diagnosis and genetic counseling of such rare disorders.
 
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