Seigo Terawaki
   Department   Kawasaki Medical School  Kawasaki Medical School, Department of Molecular and Genetic Medicine,
   Position   Assistant Professor with Special Assignment
Article types 症例報告
Language English
Peer review Peer reviewed
Title Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Journal Formal name：Genes
Abbreviation：Genes (Basel)
ISSN code：20734425/20734425
Domestic / ForeginForegin
Volume, Issue, Page 14(8)
International coauthorship International coauthorship
Author and coauthor Viktoriia Sofronova, Lyutsiya Gotovtseva, Anastasia Danilova, Aitalina Sukhomyasova, Takahito Moriwaki, Seigo Terawaki, Takanobu Otomo, Nadezhda Maksimova
Publication date 2023/08
Summary 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.
DOI 10.3390/genes14081581
PMID 37628632