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Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
BACKGROUND: Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation,...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638061/ https://www.ncbi.nlm.nih.gov/pubmed/34904097 http://dx.doi.org/10.12998/wjcc.v9.i33.10257 |
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author | Guo, Hong-Xian Li, Bao-Wei Hu, Mei Si, Shao-Yan Feng, Kai |
author_facet | Guo, Hong-Xian Li, Bao-Wei Hu, Mei Si, Shao-Yan Feng, Kai |
author_sort | Guo, Hong-Xian |
collection | PubMed |
description | BACKGROUND: Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China. CASE SUMMARY: This study reports a de novo KDM6A mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19). CONCLUSION: We present a Chinese KS patient with a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum. |
format | Online Article Text |
id | pubmed-8638061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-86380612021-12-12 Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report Guo, Hong-Xian Li, Bao-Wei Hu, Mei Si, Shao-Yan Feng, Kai World J Clin Cases Case Report BACKGROUND: Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China. CASE SUMMARY: This study reports a de novo KDM6A mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19). CONCLUSION: We present a Chinese KS patient with a novel KDM6A frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum. Baishideng Publishing Group Inc 2021-11-26 2021-11-26 /pmc/articles/PMC8638061/ /pubmed/34904097 http://dx.doi.org/10.12998/wjcc.v9.i33.10257 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. |
spellingShingle | Case Report Guo, Hong-Xian Li, Bao-Wei Hu, Mei Si, Shao-Yan Feng, Kai Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title | Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title_full | Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title_fullStr | Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title_full_unstemmed | Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title_short | Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report |
title_sort | novel kdm6a mutation in a chinese infant with kabuki syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638061/ https://www.ncbi.nlm.nih.gov/pubmed/34904097 http://dx.doi.org/10.12998/wjcc.v9.i33.10257 |
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