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

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...

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Main Authors: Roghayeh Dehghan, Mahdiyeh Behnam, Alireza Moafi, Mansoor Salehi
Format: Article
Language:English
Published: Hindawi Limited 2021-01-01
Series:Case Reports in Immunology
Online Access:http://dx.doi.org/10.1155/2021/3143609
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spelling doaj-c893410b4e824d7b874279a61ae9fec32021-09-06T00:01:20ZengHindawi LimitedCase Reports in Immunology2090-66172021-01-01202110.1155/2021/3143609A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid AntibodiesRoghayeh Dehghan0Mahdiyeh Behnam1Alireza Moafi2Mansoor Salehi3Department of Genetics and Molecular BiologyCellular, Molecular and Genetics Research CenterPediatric Hematology and OncologyDepartment of Genetics and Molecular BiologyCohen 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.http://dx.doi.org/10.1155/2021/3143609
collection DOAJ
language English
format Article
sources DOAJ
author Roghayeh Dehghan
Mahdiyeh Behnam
Alireza Moafi
Mansoor Salehi
spellingShingle Roghayeh Dehghan
Mahdiyeh Behnam
Alireza Moafi
Mansoor Salehi
A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
Case Reports in Immunology
author_facet Roghayeh Dehghan
Mahdiyeh Behnam
Alireza Moafi
Mansoor Salehi
author_sort Roghayeh Dehghan
title A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
title_short A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
title_full A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
title_fullStr A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
title_full_unstemmed A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
title_sort novel mutation in the vps13b gene in a cohen syndrome patient with positive antiphospholipid antibodies
publisher Hindawi Limited
series Case Reports in Immunology
issn 2090-6617
publishDate 2021-01-01
description 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.
url http://dx.doi.org/10.1155/2021/3143609
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