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Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
BACKGROUND: Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofaci...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487392/ https://www.ncbi.nlm.nih.gov/pubmed/37692084 http://dx.doi.org/10.1515/tnsci-2022-0304 |
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author | Kang, Li Ma, Yixuan Zhao, Peng |
author_facet | Kang, Li Ma, Yixuan Zhao, Peng |
author_sort | Kang, Li |
collection | PubMed |
description | BACKGROUND: Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of VPS13B have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Cohen syndrome diagnosed by whole exome sequencing. RESULTS: Both children visited for psychomotor retardation. Gene detection showed a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and heterozygotic deletion of exon 3-19 of the VPS13B gene (Case 1), and a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Case 2). The variation was predicted to be pathogenic by related software, and they have not been reported. CONCLUSION: Cohen syndrome should be considered in the differential diagnosis of any child with developmental retardation and neutropenia. The present study increases the mutation spectrum of the VPS13B gene and could be helpful in genetic diagnosis and genetic counseling in Cohen syndrome patients. |
format | Online Article Text |
id | pubmed-10487392 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | De Gruyter |
record_format | MEDLINE/PubMed |
spelling | pubmed-104873922023-09-09 Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series Kang, Li Ma, Yixuan Zhao, Peng Transl Neurosci Case Report BACKGROUND: Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200 mutations of VPS13B have been reported in over 1,000 Cohen syndrome patients. This article reviews the clinical data of two cases of Cohen syndrome diagnosed by whole exome sequencing. RESULTS: Both children visited for psychomotor retardation. Gene detection showed a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and heterozygotic deletion of exon 3-19 of the VPS13B gene (Case 1), and a mutation in 8q22.2, NM_017890.4 Intron38 c.6940+1G > T and 8q22, NM_017890.4 Exon56 c10334_10335del in the VPS13B gene (Case 2). The variation was predicted to be pathogenic by related software, and they have not been reported. CONCLUSION: Cohen syndrome should be considered in the differential diagnosis of any child with developmental retardation and neutropenia. The present study increases the mutation spectrum of the VPS13B gene and could be helpful in genetic diagnosis and genetic counseling in Cohen syndrome patients. De Gruyter 2023-09-01 /pmc/articles/PMC10487392/ /pubmed/37692084 http://dx.doi.org/10.1515/tnsci-2022-0304 Text en © 2023 the author(s), published by De Gruyter https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Case Report Kang, Li Ma, Yixuan Zhao, Peng Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title | Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title_full | Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title_fullStr | Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title_full_unstemmed | Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title_short | Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series |
title_sort | deletion as novel variants in vps13b gene in cohen syndrome: case series |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487392/ https://www.ncbi.nlm.nih.gov/pubmed/37692084 http://dx.doi.org/10.1515/tnsci-2022-0304 |
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