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Mutations in <em>ELANE</em> and <em>COH1</em> (<em>VPS13B</em>) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome | OMICS International | Abstract
ISSN: 2155-9899

Journal of Clinical & Cellular Immunology
Open Access

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Case Report

Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome

Lauren Beene1,2, Baozhong Xin1, Claudia Lukas3 and Heng Wang1,2*
1DDC Clinic -- Center for Special Needs Children, Middlefield, Ohio, USA
2Department of Pediatrics, Case Western Reserve University School of Medicine, Rainbow Babies and Children’s Hospital, Cleveland, Ohio, USA
3Department of Hematology-Oncology, All Children’s Hospital, St. Petersburg, Florida, USA
Corresponding Author : Heng Wang, MD
PhD, DDC Clinic -- Center for Special Needs Children
14567 Madison Road, Middlefield
OH 44062, USA
Tel: 440-632-1668
Fax: 440-632-1697
E-mail: [email protected]
Received: October 27, 2015 Accepted: December 16, 2015 Published: December 28, 2015
Citation: Beene L, Xin B, Lukas C, Wang H (2015) Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome. J Clin Cell Immunol 6:378. doi:10.4172/2155-9899.1000378
Copyright: © 2015 Beene L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

In this case report we describe a patient with cohen syndrome and severe neutropenia. The patient was found to have a mutation of previously undetermined significance in the ELANE gene and compound heterozygous mutations in the COH1 gene causing Cohen syndrome. While the mutation in ELANE may not have led to clinically significant neutropenia independently, the presence of this mutation in conjunction with mutations in COH1 led to neutropenia that was more severe than what is typically seen in Cohen syndrome. This case report suggests that the combination of mutations in ELANE and COH1, both impacting similar intracellular trafficking mechanisms, led to an exaggerated clinical phenotype. Based on this case presentation, we encourage consideration of additional candidate genes when an identified genetic mutation cannot fully explain the scope or severity of the clinical picture, as recognition of all mutations impacting a clinical phenotype will help achieve a more comprehensive diagnosis.

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