A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis
Non-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy. Since most NIHFs do not have an identifiable cause, determining the underlying etiology remains a challenge for prenata...
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| Format: | Article |
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Elsevier
2024-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426923000794 |
| _version_ | 1827341553025155072 |
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| author | Runxuan Du Haishen Tian Bingyi Zhao Xuedong Shi Yanmei Sun Bo Qiu Yali Li |
| author_facet | Runxuan Du Haishen Tian Bingyi Zhao Xuedong Shi Yanmei Sun Bo Qiu Yali Li |
| author_sort | Runxuan Du |
| collection | DOAJ |
| description | Non-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy. Since most NIHFs do not have an identifiable cause, determining the underlying etiology remains a challenge for prenatal counseling. Due to advancements in exome sequencing, the diagnostic rates of NIHF have recently increased. As reported here, DNA was extracted from the amniotic fluid of a pregnant woman who was prenatally diagnosed with a NIHF type of unclear origin. Amniocentesis sampling demonstrated a normal female karyotype and copy number variation(CNVs) without alterations. Tri-whole exome sequencing (WES) was conducted to identify possible causative variants. In the fetus, a de novo genetic mutation was identified as a homozygous form. The mutation was located on the glucuronidase beta (GUSB) gene: NM_000181.3: c.1324G > A; p. Ala442Thr; Chr7:65439349, which leads to mucopolysaccharidosis type VII. This mutation was inherited from the parents and was first reported to be related to NIHF. We conclude that the use of WES is beneficial for NIHF cases whose prognosis has not been explained by standard genetic testing. |
| first_indexed | 2024-03-07T21:44:42Z |
| format | Article |
| id | doaj.art-a73794be80284e0d87441b5243d61da8 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-03-07T21:44:42Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-a73794be80284e0d87441b5243d61da82024-02-26T04:15:33ZengElsevierMolecular Genetics and Metabolism Reports2214-42692024-03-0138101033A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalisRunxuan Du0Haishen Tian1Bingyi Zhao2Xuedong Shi3Yanmei Sun4Bo Qiu5Yali Li6Department of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of pharmacy, Hebei General Hospital, Hebei Provincial, Shijiazhuang, ChinaDepartment of Reproduction and Genetics, Hebei General Hospital, Hebei Provincial, Shijiazhuang, China; Corresponding author.Non-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy. Since most NIHFs do not have an identifiable cause, determining the underlying etiology remains a challenge for prenatal counseling. Due to advancements in exome sequencing, the diagnostic rates of NIHF have recently increased. As reported here, DNA was extracted from the amniotic fluid of a pregnant woman who was prenatally diagnosed with a NIHF type of unclear origin. Amniocentesis sampling demonstrated a normal female karyotype and copy number variation(CNVs) without alterations. Tri-whole exome sequencing (WES) was conducted to identify possible causative variants. In the fetus, a de novo genetic mutation was identified as a homozygous form. The mutation was located on the glucuronidase beta (GUSB) gene: NM_000181.3: c.1324G > A; p. Ala442Thr; Chr7:65439349, which leads to mucopolysaccharidosis type VII. This mutation was inherited from the parents and was first reported to be related to NIHF. We conclude that the use of WES is beneficial for NIHF cases whose prognosis has not been explained by standard genetic testing.http://www.sciencedirect.com/science/article/pii/S2214426923000794Whole exome sequencingNon-immune hydrops fetalisMucopolysaccharidosis type VIIGUSB geneCase report |
| spellingShingle | Runxuan Du Haishen Tian Bingyi Zhao Xuedong Shi Yanmei Sun Bo Qiu Yali Li A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis Molecular Genetics and Metabolism Reports Whole exome sequencing Non-immune hydrops fetalis Mucopolysaccharidosis type VII GUSB gene Case report |
| title | A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis |
| title_full | A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis |
| title_fullStr | A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis |
| title_full_unstemmed | A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis |
| title_short | A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis |
| title_sort | de novo homozygous missense mutation of the gusb gene leads to mucopolysaccharidosis type vii identification in a family with twice adverse pregnancy outcomes due to non immune hydrops fetalis |
| topic | Whole exome sequencing Non-immune hydrops fetalis Mucopolysaccharidosis type VII GUSB gene Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2214426923000794 |
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