围产期致死性戈谢病由 GBA 基因剪接突变的复合杂合性引起。
Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene.
机构信息
Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan; Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taipei, Taiwan.
Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2023 Jan;62(1):175-178. doi: 10.1016/j.tjog.2022.07.012.
OBJECTIVE
In order to figure out the cause for two consecutive fetuses with nonimmune hydrops fetalis (NIHF) in a Taiwanese couple, whole-Exome Sequencing and Sanger Sequencing were applied for the family.
CASE REPORT
The two fetuses developed NIHF at gestation age of 19 and 21 weeks, respectively. The clinical features included ascites and pleural effusion, flattened nasofrontal angle, skin edema, clenched hands, ambiguous genitalia, hepatosplenomegaly and fetal thrombocytopenia. Magnetic resonance imaging of the brain showed cerebellar hypoplasia and delayed cortical maturation. The GBA deleterious variants c.1505+5G > C and c.308-1G > A were both detected in the two fetuses.
CONCLUSION
The report provided the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple. The novel genetic mutations identified in the study also contribute to the known spectrum of PLGD-related mutations.
目的
为了找出一对台湾夫妇连续两胎出现非免疫性胎儿水肿（NIHF）的原因，对该家庭进行了全外显子组测序和 Sanger 测序。
病例报告
这对夫妇的两个胎儿分别在妊娠 19 周和 21 周时出现 NIHF。临床特征包括腹水和胸腔积液、鼻额角扁平、皮肤水肿、紧握双手、生殖器模糊、肝脾肿大和胎儿血小板减少症。脑部磁共振成像显示小脑发育不良和皮质成熟延迟。在两个胎儿中均检测到 GBA 有害变异 c.1505+5G>C 和 c.308-1G>A。
结论
该报告提供了围产期致死性戈谢病（PLGD）的宝贵临床表型经验，并为夫妇的下一次妊娠提供了生殖医学建议。本研究中鉴定的新基因突变也有助于已知的 PLGD 相关突变谱。
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