Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women
Abstract Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pa...
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| Format: | Article |
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Wiley
2022-07-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1959 |
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| author | Tat‐Thanh Nguyen Quang‐Thanh Le Diem‐Tuyet Thi Hoang Huu Du Nguyen Thi Minh Thi Ha My‐Nhi Ba Nguyen Thanh‐Thuy Thi Ta Nhat Thang Tran Thu Huong Nhat Trinh Kim Phuong Thi Doan Duc Tam Lam Son Tra Thi Tran Thanh Xuan Nguyen Hong‐Thinh Le Van Tuan Ha Manh Hoan Nguyen Ba‐Liem Kim Le My Linh Duong Trung Ha Pham Anh Tuan Tran Xuan Lan Thi Phan Thanh Liem Huynh Lan‐Phuong Thi Nguyen Thanh Binh Vo Duy‐Khang Nguyen Le Ngoc Nhu Thi Tran Quynh Nhu Thi Tran Yen‐Linh Thi Van Bich‐Ngoc Thi Huynh Thanh‐Phương Thi Nguyen Trang Thi Dao Lan Phuong Thi Nguyen Truong‐Giang Vo Thanh‐Thuy Thi Do Dinh‐Kiet Truong Hung Sang Tang Minh‐Duy Phan Hoai‐Nghia Nguyen Hoa Giang |
| author_facet | Tat‐Thanh Nguyen Quang‐Thanh Le Diem‐Tuyet Thi Hoang Huu Du Nguyen Thi Minh Thi Ha My‐Nhi Ba Nguyen Thanh‐Thuy Thi Ta Nhat Thang Tran Thu Huong Nhat Trinh Kim Phuong Thi Doan Duc Tam Lam Son Tra Thi Tran Thanh Xuan Nguyen Hong‐Thinh Le Van Tuan Ha Manh Hoan Nguyen Ba‐Liem Kim Le My Linh Duong Trung Ha Pham Anh Tuan Tran Xuan Lan Thi Phan Thanh Liem Huynh Lan‐Phuong Thi Nguyen Thanh Binh Vo Duy‐Khang Nguyen Le Ngoc Nhu Thi Tran Quynh Nhu Thi Tran Yen‐Linh Thi Van Bich‐Ngoc Thi Huynh Thanh‐Phương Thi Nguyen Trang Thi Dao Lan Phuong Thi Nguyen Truong‐Giang Vo Thanh‐Thuy Thi Do Dinh‐Kiet Truong Hung Sang Tang Minh‐Duy Phan Hoai‐Nghia Nguyen Hoa Giang |
| author_sort | Tat‐Thanh Nguyen |
| collection | DOAJ |
| description | Abstract Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. Methods Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. Results Of 3259 women screened across Vietnam, 450 (13.8%) carried disease‐associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. Conclusion This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost‐effective genetic metabolic carrier screening programmes. |
| first_indexed | 2024-12-11T02:45:43Z |
| format | Article |
| id | doaj.art-037b4a2351ac4123ba7b778f1ae0fea6 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-11T02:45:43Z |
| publishDate | 2022-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-037b4a2351ac4123ba7b778f1ae0fea62022-12-22T01:23:27ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-07-01107n/an/a10.1002/mgg3.1959Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant womenTat‐Thanh Nguyen0Quang‐Thanh Le1Diem‐Tuyet Thi Hoang2Huu Du Nguyen3Thi Minh Thi Ha4My‐Nhi Ba Nguyen5Thanh‐Thuy Thi Ta6Nhat Thang Tran7Thu Huong Nhat Trinh8Kim Phuong Thi Doan9Duc Tam Lam10Son Tra Thi Tran11Thanh Xuan Nguyen12Hong‐Thinh Le13Van Tuan Ha14Manh Hoan Nguyen15Ba‐Liem Kim Le16My Linh Duong17Trung Ha Pham18Anh Tuan Tran19Xuan Lan Thi Phan20Thanh Liem Huynh21Lan‐Phuong Thi Nguyen22Thanh Binh Vo23Duy‐Khang Nguyen Le24Ngoc Nhu Thi Tran25Quynh Nhu Thi Tran26Yen‐Linh Thi Van27Bich‐Ngoc Thi Huynh28Thanh‐Phương Thi Nguyen29Trang Thi Dao30Lan Phuong Thi Nguyen31Truong‐Giang Vo32Thanh‐Thuy Thi Do33Dinh‐Kiet Truong34Hung Sang Tang35Minh‐Duy Phan36Hoai‐Nghia Nguyen37Hoa Giang38R&D Department Gene Solutions Ho Chi Minh City VietnamObstetrics Division Tu Du Hospital Ho Chi Minh City VietnamObstetrics and Genetics Department Hung Vuong Hospital Ho Chi Minh City VietnamObstetrics Division Can Tho Gynecology Obstetrics Hospital Can Tho VietnamMedical Genetics Department University of Medicine and Pharmacy, Hue University Hue VietnamObstetrics and Gynecology Division Tam Anh Hospital Ho Chi Minh City VietnamObstetrics and Gynecology Division Mekong Hospital Ho Chi Minh City VietnamObstetrics and Gynecology Department University Medical Center Ho Chi Minh City VietnamObstetrics Division Tu Du Hospital Ho Chi Minh City VietnamBiomedicine and Genetics Department Hanoi Medical University Hanoi VietnamObstetrics and Gynecology Department Can Tho University of Medicine and Pharmacy Can Tho VietnamObstetrics and Gynecology Department Vietnam‐Cuba Friendship Dong Hoi Hospital Quang Binh VietnamObstetrics and Gynecology Department Hue Central Hospital Hue VietnamObstetrics Division Can Tho Gynecology Obstetrics Hospital Can Tho VietnamObstetrics and Gynecology Department Buon Ma Thuot University Hospital Buon Ma Thuot VietnamObstetrics and Gynecology Department Dong Nai General Hospital Dong Nai VietnamObstetrics and Genetics Department Hung Vuong Hospital Ho Chi Minh City VietnamObstetrics and Gynecology Department Can Tho University of Medicine and Pharmacy Can Tho VietnamObstetrics Division Sai Gon International Gynecology Obstetrics Hospital Ho Chi Minh City VietnamObstetrics Division Sai Gon International Gynecology Obstetrics Hospital Ho Chi Minh City VietnamObstetrics Division Sai Gon International Gynecology Obstetrics Hospital Ho Chi Minh City VietnamObstetrics Division Can Tho Gynecology Obstetrics Hospital Can Tho VietnamObstetrics and Gynecology Department Long Khanh Hospital Dong Nai VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamBiomedicine and Genetics Department Hanoi Medical University Hanoi VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamGenetics and Genomics Division Medical Genetics Institute Ho Chi Minh City VietnamGenetics and Genomics Division Medical Genetics Institute Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamGenetics and Genomics Division Medical Genetics Institute Ho Chi Minh City VietnamR&D Department Gene Solutions Ho Chi Minh City VietnamAbstract Background Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population. Methods Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes. Results Of 3259 women screened across Vietnam, 450 (13.8%) carried disease‐associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported. Conclusion This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost‐effective genetic metabolic carrier screening programmes.https://doi.org/10.1002/mgg3.1959G6PDdGALmassively parallel sequencingPKUVietnam |
| spellingShingle | Tat‐Thanh Nguyen Quang‐Thanh Le Diem‐Tuyet Thi Hoang Huu Du Nguyen Thi Minh Thi Ha My‐Nhi Ba Nguyen Thanh‐Thuy Thi Ta Nhat Thang Tran Thu Huong Nhat Trinh Kim Phuong Thi Doan Duc Tam Lam Son Tra Thi Tran Thanh Xuan Nguyen Hong‐Thinh Le Van Tuan Ha Manh Hoan Nguyen Ba‐Liem Kim Le My Linh Duong Trung Ha Pham Anh Tuan Tran Xuan Lan Thi Phan Thanh Liem Huynh Lan‐Phuong Thi Nguyen Thanh Binh Vo Duy‐Khang Nguyen Le Ngoc Nhu Thi Tran Quynh Nhu Thi Tran Yen‐Linh Thi Van Bich‐Ngoc Thi Huynh Thanh‐Phương Thi Nguyen Trang Thi Dao Lan Phuong Thi Nguyen Truong‐Giang Vo Thanh‐Thuy Thi Do Dinh‐Kiet Truong Hung Sang Tang Minh‐Duy Phan Hoai‐Nghia Nguyen Hoa Giang Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women Molecular Genetics & Genomic Medicine G6PDd GAL massively parallel sequencing PKU Vietnam |
| title | Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women |
| title_full | Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women |
| title_fullStr | Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women |
| title_full_unstemmed | Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women |
| title_short | Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women |
| title_sort | massively parallel sequencing uncovered disease associated variant spectra of glucose 6 phosphate dehydrogenase deficiency phenylketonuria and galactosemia in vietnamese pregnant women |
| topic | G6PDd GAL massively parallel sequencing PKU Vietnam |
| url | https://doi.org/10.1002/mgg3.1959 |
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