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A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype
BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be charact...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762001/ https://www.ncbi.nlm.nih.gov/pubmed/36536324 http://dx.doi.org/10.1186/s12883-022-03023-3 |
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author | Shen, Ruiyun Li, Yanyang Liang, Aiming Li, Shijie Yang, Chenlu Huang, Hongmei |
author_facet | Shen, Ruiyun Li, Yanyang Liang, Aiming Li, Shijie Yang, Chenlu Huang, Hongmei |
author_sort | Shen, Ruiyun |
collection | PubMed |
description | BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail. CASE PRESENTATION: Herein, we identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C > A, p.S1178X) in a sporadic 4-year-old Chinese girl, who presented with Claes-Jensen type-like phenotypes, such as moderate developmental delay, serious expressive language delay, short stature, microcephaly, and typical facial particularities. Moreover, X-chromosome inactivation (XCI) analysis showed no significant skewed X-inactivation. CONCLUSION: The report expands the genotype of KDM5C variation in female patients, delineates the phenotype of affected females in this well-known X-linked disorder, and also reinforces the necessity to consider this X-linked gene, KDM5C, in sporadic female patients. |
format | Online Article Text |
id | pubmed-9762001 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-97620012022-12-20 A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype Shen, Ruiyun Li, Yanyang Liang, Aiming Li, Shijie Yang, Chenlu Huang, Hongmei BMC Neurol Case Report BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail. CASE PRESENTATION: Herein, we identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C > A, p.S1178X) in a sporadic 4-year-old Chinese girl, who presented with Claes-Jensen type-like phenotypes, such as moderate developmental delay, serious expressive language delay, short stature, microcephaly, and typical facial particularities. Moreover, X-chromosome inactivation (XCI) analysis showed no significant skewed X-inactivation. CONCLUSION: The report expands the genotype of KDM5C variation in female patients, delineates the phenotype of affected females in this well-known X-linked disorder, and also reinforces the necessity to consider this X-linked gene, KDM5C, in sporadic female patients. BioMed Central 2022-12-19 /pmc/articles/PMC9762001/ /pubmed/36536324 http://dx.doi.org/10.1186/s12883-022-03023-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Shen, Ruiyun Li, Yanyang Liang, Aiming Li, Shijie Yang, Chenlu Huang, Hongmei A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title | A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title_full | A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title_fullStr | A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title_full_unstemmed | A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title_short | A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype |
title_sort | female case with novel kdm5c heterozygous variation presenting with claes-jensen type-like phonotype |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762001/ https://www.ncbi.nlm.nih.gov/pubmed/36536324 http://dx.doi.org/10.1186/s12883-022-03023-3 |
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