Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene
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...
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Format: | Article |
Language: | English |
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Elsevier
2023-01-01
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Series: | Taiwanese Journal of Obstetrics & Gynecology |
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Online Access: | http://www.sciencedirect.com/science/article/pii/S102845592200362X |
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author | Tsai-Jung Lu Tzu-Hung Hsiao Jiaan-Der Wang Feng-Chu Lo Pei-Pei Jhan Wei-Chih Chen |
author_facet | Tsai-Jung Lu Tzu-Hung Hsiao Jiaan-Der Wang Feng-Chu Lo Pei-Pei Jhan Wei-Chih Chen |
author_sort | Tsai-Jung Lu |
collection | DOAJ |
description | 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. |
first_indexed | 2024-04-10T19:04:13Z |
format | Article |
id | doaj.art-222afb79ebd74c98ab34e29fd67fda9c |
institution | Directory Open Access Journal |
issn | 1028-4559 |
language | English |
last_indexed | 2024-04-10T19:04:13Z |
publishDate | 2023-01-01 |
publisher | Elsevier |
record_format | Article |
series | Taiwanese Journal of Obstetrics & Gynecology |
spelling | doaj.art-222afb79ebd74c98ab34e29fd67fda9c2023-01-31T04:08:25ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-01-01621175178Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA geneTsai-Jung Lu0Tzu-Hung Hsiao1Jiaan-Der Wang2Feng-Chu Lo3Pei-Pei Jhan4Wei-Chih Chen5Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan; Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taipei, TaiwanDepartment of Medical Research, Taichung Veterans General Hospital, Taichung, TaiwanCenter for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan; Department of Industrial Engineering and Enterprise Information, Tunghai University, Taichung, TaiwanDepartment of Obstetrics and Gynecology, Taichung Veterans General Hospital, Taichung, TaiwanDepartment of Medical Research, Taichung Veterans General Hospital, Taichung, TaiwanDepartment of Obstetrics and Gynecology, Taichung Veterans General Hospital, Taichung, Taiwan; Corresponding author. No. 1650, Taiwan Boulevard Sect. 4, Taichung 40705, Taiwan.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.http://www.sciencedirect.com/science/article/pii/S102845592200362XPerinatal lethal Gaucher diseaseHydrops fetalisGBA geneWhole-exome sequencing |
spellingShingle | Tsai-Jung Lu Tzu-Hung Hsiao Jiaan-Der Wang Feng-Chu Lo Pei-Pei Jhan Wei-Chih Chen Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene Taiwanese Journal of Obstetrics & Gynecology Perinatal lethal Gaucher disease Hydrops fetalis GBA gene Whole-exome sequencing |
title | Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene |
title_full | Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene |
title_fullStr | Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene |
title_full_unstemmed | Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene |
title_short | Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene |
title_sort | perinatal lethal gaucher disease due to compound heterozygosity of the splicing mutations in gba gene |
topic | Perinatal lethal Gaucher disease Hydrops fetalis GBA gene Whole-exome sequencing |
url | http://www.sciencedirect.com/science/article/pii/S102845592200362X |
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