A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies

A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies Publisher

Dehghan R¹ ; Behnam M² ; Moafi A³ ; Salehi M^{1, 4, 5}

Show Affiliations

1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran
2. Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
3. Pediatric Hematology and Oncology, Isfahan University of Medical Sciences, Isfahan, Iran
4. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
5. Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Case Reports in Immunology Published:2021

Abstract

Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. He also had mild anemia accompanied by positive antiphospholipid antibodies, the latter has never been previously reported in Cohen syndrome. © 2021 Roghayeh Dehghan et al.

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Style	Citing Format
MLA	Dehghan R, et al.. "A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies." Case Reports in Immunology, vol. 2021, no. , 2021, pp. -.
APA	Dehghan R, Behnam M, Moafi A, Salehi M (2021). A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies. Case Reports in Immunology, 2021(), -.
Chicago	Dehghan R, Behnam M, Moafi A, Salehi M. "A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies." Case Reports in Immunology 2021, no. (2021): -.
Harvard	Dehghan R et al. (2021) 'A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies', Case Reports in Immunology, 2021(), pp. -.
Vancouver	Dehghan R, Behnam M, Moafi A, Salehi M. A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies. Case Reports in Immunology. 2021;2021():-.
BibTex	@article{ author = {Dehghan R and Behnam M and Moafi A and Salehi M}, title = {A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies}, journal = {Case Reports in Immunology}, volume = {2021}, number = {}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Dehghan R AU - Behnam M AU - Moafi A AU - Salehi M TI - A Novel Mutation in the Vps13b Gene in a Cohen Syndrome Patient With Positive Antiphospholipid Antibodies JO - Case Reports in Immunology VL - 2021 IS - SP - EP - PY - 2021 ER -

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