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...

Full description

Bibliographic Details
Main Authors: Tsai-Jung Lu, Tzu-Hung Hsiao, Jiaan-Der Wang, Feng-Chu Lo, Pei-Pei Jhan, Wei-Chih Chen
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S102845592200362X
_version_ 1797938727747584000
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
work_keys_str_mv AT tsaijunglu perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene
AT tzuhunghsiao perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene
AT jiaanderwang perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene
AT fengchulo perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene
AT peipeijhan perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene
AT weichihchen perinatallethalgaucherdiseaseduetocompoundheterozygosityofthesplicingmutationsingbagene