A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios
Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p....
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Frontiers Media S.A.
2021
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oai:doaj.org-article:a3af009d1123468cb082e8be20ccc7692021-12-01T23:11:11ZA Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios2296-236010.3389/fped.2021.778814https://doaj.org/article/a3af009d1123468cb082e8be20ccc7692021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.778814/fullhttps://doaj.org/toc/2296-2360Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p. Leu245GlufsTer4) in the MAGED2 gene (NM_177433.1) that caused prenatal polyhydramnios, but did not cause polyuria after birth. Follow-up was conducted for 2 months, and the baby's growth and development were normal, without polyuria and renal impairment. In addition, we identified all individuals with MAGED2 mutations reported in the literature before March 2021.Conclusion: We report a new case with a novel variant of the MAGED2 gene that caused severe hydramnios but with a good result and summary clinical characteristics in a newborn with antenatal Bartter's syndrome caused by an MAGED2 mutation. Good prenatal diagnosis and genetic consultation can improve pregnancy monitoring and newborn management.Xiaoxia WuXiaoxia WuLe HuangCaiqun LuoYang LiuJianmin NiuJianmin NiuFrontiers Media S.A.articleMAGED2polyhydramniosantenatal Bartter's syndromecase reportmutationPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021) |
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DOAJ |
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EN |
| topic |
MAGED2 polyhydramnios antenatal Bartter's syndrome case report mutation Pediatrics RJ1-570 |
| spellingShingle |
MAGED2 polyhydramnios antenatal Bartter's syndrome case report mutation Pediatrics RJ1-570 Xiaoxia Wu Xiaoxia Wu Le Huang Caiqun Luo Yang Liu Jianmin Niu Jianmin Niu A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| description |
Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p. Leu245GlufsTer4) in the MAGED2 gene (NM_177433.1) that caused prenatal polyhydramnios, but did not cause polyuria after birth. Follow-up was conducted for 2 months, and the baby's growth and development were normal, without polyuria and renal impairment. In addition, we identified all individuals with MAGED2 mutations reported in the literature before March 2021.Conclusion: We report a new case with a novel variant of the MAGED2 gene that caused severe hydramnios but with a good result and summary clinical characteristics in a newborn with antenatal Bartter's syndrome caused by an MAGED2 mutation. Good prenatal diagnosis and genetic consultation can improve pregnancy monitoring and newborn management. |
| format |
article |
| author |
Xiaoxia Wu Xiaoxia Wu Le Huang Caiqun Luo Yang Liu Jianmin Niu Jianmin Niu |
| author_facet |
Xiaoxia Wu Xiaoxia Wu Le Huang Caiqun Luo Yang Liu Jianmin Niu Jianmin Niu |
| author_sort |
Xiaoxia Wu |
| title |
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| title_short |
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| title_full |
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| title_fullStr |
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| title_full_unstemmed |
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios |
| title_sort |
case report and literature review of a novel mutation in the maged2 gene of a patient with severe transient polyhydramnios |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/a3af009d1123468cb082e8be20ccc769 |
| work_keys_str_mv |
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| _version_ |
1718404004309893120 |