Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

Taiwan J Obstet Gynecol. 2023 Jan;62(1):175-178. doi: 10.1016/j.tjog.2022.07.012.

PMID: 36720536

Tsai-Jung Lu, Tzu-Hung Hsiao, Jiaan-Der Wang

Highlights: This report provides 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.

Abstract

Objective: Whole-Exome Sequencing and Sanger Sequencing were used for the family to try and determine the reason why a Taiwanese couple had two consecutive fetuses with nonimmune hydrops fetalis (NIHF).

Case report: At 19 weeks and 21 weeks of gestation, the two fetuses, respectively, both developed NIHF. Ascites and pleural effusion, a flattened nasofrontal angle, skin edema, clenched hands, ambiguous genitalia, hepatosplenomegaly, and fetal thrombocytopenia were among the clinical characteristics. Cerebellar hypoplasia and delayed cortical maturation were visible on brain MRIs. The two fetuses both have the GBA deleterious variants c.1505+5G > C and c.308-1G > A.

Conclusion: The paper offered valuable insight into the clinical manifestation of perinatal lethal Gaucher disease (PLGD) as well as recommendations for reproductive medicine for a couple's subsequent pregnancy. The study's discovery of unique genetic mutations adds to the range of PLGD-related mutations already known to exist.

Keywords: GBA gene, Hydrops fetalis, Perinatal lethal Gaucher disease, Whole-exome sequencing