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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...

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Autores principales: Sofronova, Viktoriia, Gotovtseva, Lyutsiya, Danilova, Anastasia, Sukhomyasova, Aitalina, Moriwaki, Takahito, Terawaki, Seigo, Otomo, Takanobu, Maksimova, Nadezhda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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