Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

BACKGROUND: Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. CASE PRESENTATION: Here we report a case of...

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Autores principales: Li, Xin, Li, Ying, Lei, Min, Tian, Jing, Yang, Zuocheng, Kuang, Shoujin, Tan, Yanjuan, Bo, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670786/
https://www.ncbi.nlm.nih.gov/pubmed/33198675
http://dx.doi.org/10.1186/s12881-020-01163-2
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author Li, Xin
Li, Ying
Lei, Min
Tian, Jing
Yang, Zuocheng
Kuang, Shoujin
Tan, Yanjuan
Bo, Tao
author_facet Li, Xin
Li, Ying
Lei, Min
Tian, Jing
Yang, Zuocheng
Kuang, Shoujin
Tan, Yanjuan
Bo, Tao
author_sort Li, Xin
collection PubMed
description BACKGROUND: Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. CASE PRESENTATION: Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. CONCLUSION: These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.
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spelling pubmed-76707862020-11-18 Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review Li, Xin Li, Ying Lei, Min Tian, Jing Yang, Zuocheng Kuang, Shoujin Tan, Yanjuan Bo, Tao BMC Med Genet Case Report BACKGROUND: Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. CASE PRESENTATION: Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. CONCLUSION: These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates. BioMed Central 2020-11-16 /pmc/articles/PMC7670786/ /pubmed/33198675 http://dx.doi.org/10.1186/s12881-020-01163-2 Text en © The Author(s) 2020 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/. The Creative Commons Public Domain Dedication waiver (http://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
Li, Xin
Li, Ying
Lei, Min
Tian, Jing
Yang, Zuocheng
Kuang, Shoujin
Tan, Yanjuan
Bo, Tao
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title_full Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title_fullStr Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title_full_unstemmed Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title_short Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
title_sort congenital thrombocytopenia associated with gne mutations in twin sisters: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670786/
https://www.ncbi.nlm.nih.gov/pubmed/33198675
http://dx.doi.org/10.1186/s12881-020-01163-2
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