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Cohen syndrome in two patients from China

BACKGROUND: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. T...

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Autores principales: Gong, Jiaoe, Zhang, Lily, Long, Yanwei, Xiao, Bo, Long, Hongyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747547/
https://www.ncbi.nlm.nih.gov/pubmed/36073289
http://dx.doi.org/10.1002/mgg3.2053
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author Gong, Jiaoe
Zhang, Lily
Long, Yanwei
Xiao, Bo
Long, Hongyu
author_facet Gong, Jiaoe
Zhang, Lily
Long, Yanwei
Xiao, Bo
Long, Hongyu
author_sort Gong, Jiaoe
collection PubMed
description BACKGROUND: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease is rarely reported. Vacuolar Protein Sorting 13 Homolog B (VPS13B; OMIM 607817) is the only causative gene of CS. METHODS: Blood samples sourced from both siblings and parents were sent to identify mutations by trio‐WES, and changes in the patient's condition were understood through consultation data and follow‐up. RESULTS: We reported two siblings affected by developmental delay, microcephaly, intellectual disability, and facial features. The siblings' WES detected compound heterozygous variants in the exon region of VPS13B (NM_017890): c.9337A>T and c.8551A>C. CONCLUSION: Two individuals were diagnosed with CS by genetic testing and clinical features. In addition, we conduct a brief review of the reports on the Chinese population with CS and reinforce the understanding of the correlation between genotype–phenotype.
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spelling pubmed-97475472022-12-14 Cohen syndrome in two patients from China Gong, Jiaoe Zhang, Lily Long, Yanwei Xiao, Bo Long, Hongyu Mol Genet Genomic Med Clinical Reports BACKGROUND: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early‐onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease is rarely reported. Vacuolar Protein Sorting 13 Homolog B (VPS13B; OMIM 607817) is the only causative gene of CS. METHODS: Blood samples sourced from both siblings and parents were sent to identify mutations by trio‐WES, and changes in the patient's condition were understood through consultation data and follow‐up. RESULTS: We reported two siblings affected by developmental delay, microcephaly, intellectual disability, and facial features. The siblings' WES detected compound heterozygous variants in the exon region of VPS13B (NM_017890): c.9337A>T and c.8551A>C. CONCLUSION: Two individuals were diagnosed with CS by genetic testing and clinical features. In addition, we conduct a brief review of the reports on the Chinese population with CS and reinforce the understanding of the correlation between genotype–phenotype. John Wiley and Sons Inc. 2022-09-08 /pmc/articles/PMC9747547/ /pubmed/36073289 http://dx.doi.org/10.1002/mgg3.2053 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Clinical Reports
Gong, Jiaoe
Zhang, Lily
Long, Yanwei
Xiao, Bo
Long, Hongyu
Cohen syndrome in two patients from China
title Cohen syndrome in two patients from China
title_full Cohen syndrome in two patients from China
title_fullStr Cohen syndrome in two patients from China
title_full_unstemmed Cohen syndrome in two patients from China
title_short Cohen syndrome in two patients from China
title_sort cohen syndrome in two patients from china
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747547/
https://www.ncbi.nlm.nih.gov/pubmed/36073289
http://dx.doi.org/10.1002/mgg3.2053
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