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Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454871/ https://www.ncbi.nlm.nih.gov/pubmed/37628632 http://dx.doi.org/10.3390/genes14081581 |
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author | Sofronova, Viktoriia Gotovtseva, Lyutsiya Danilova, Anastasia Sukhomyasova, Aitalina Moriwaki, Takahito Terawaki, Seigo Otomo, Takanobu Maksimova, Nadezhda |
author_facet | Sofronova, Viktoriia Gotovtseva, Lyutsiya Danilova, Anastasia Sukhomyasova, Aitalina Moriwaki, Takahito Terawaki, Seigo Otomo, Takanobu Maksimova, Nadezhda |
author_sort | Sofronova, Viktoriia |
collection | PubMed |
description | Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents. |
format | Online Article Text |
id | pubmed-10454871 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104548712023-08-26 Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) Sofronova, Viktoriia Gotovtseva, Lyutsiya Danilova, Anastasia Sukhomyasova, Aitalina Moriwaki, Takahito Terawaki, Seigo Otomo, Takanobu Maksimova, Nadezhda Genes (Basel) Case Report Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents. MDPI 2023-08-03 /pmc/articles/PMC10454871/ /pubmed/37628632 http://dx.doi.org/10.3390/genes14081581 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Sofronova, Viktoriia Gotovtseva, Lyutsiya Danilova, Anastasia Sukhomyasova, Aitalina Moriwaki, Takahito Terawaki, Seigo Otomo, Takanobu Maksimova, Nadezhda Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title | Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title_full | Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title_fullStr | Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title_full_unstemmed | Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title_short | Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) |
title_sort | prenatal diagnosis of mucopolysaccharidosis-plus syndrome (mpsps) |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454871/ https://www.ncbi.nlm.nih.gov/pubmed/37628632 http://dx.doi.org/10.3390/genes14081581 |
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