Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.
Genes (Basel). 2023 Aug 3;14(8):1581. doi: 10.3390/genes14081581.
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the 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.
黏多糖贮积症伴多发畸形综合征（MPSPS）是一种常染色体隐性遗传病，由基因中的 c.1492C>T（p.R498W）突变引起。MPSPS 是一种严重的疾病，导致患者寿命较短。目前，尚无针对该疾病的特定治疗方法。雅库特人群比其他人群更容易患此病。MPSPS 的诊断依赖于临床表现，基因检测（GT）用于确认诊断。在这项研究中，我们检查了两例妊娠病例，其中一例涉及 MPSPS 的产前诊断。值得注意的是，这两名孕妇都没有已知的该疾病家族史。在妊娠期间，两名孕妇均接受了产前超声检查，结果显示孕中期鼻前厚度增加。在第一例中，超声检查显示孕中期鼻前厚度增加，但当时并未做出明确诊断。患者最终在 11 个月大时被诊断为 MPSPS。相反，在第二例中，GT 发现父母均为 MPSPS 携带者。因此，进行了胎盘活检，从而早期诊断出 MPSPS。本研究强调了超声检查在产前 MPSPS 诊断中的重要性。将超声检查与 GT 相结合，可以早期确诊 MPSPS，从而为分娩方式和医疗护理的规划提供依据。最终，这种综合方法可以显著提高受影响患者及其父母的生活质量。
