Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance
Abstract A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked recessive urea cycle disorders. Extensive...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-09-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6347 |
| _version_ | 1798000121919569920 |
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| author | Toby Chun Hei Chan Hoi Ning Cheung Jasmine Chow Mei Tik Leung Sammy Pak Lam Chen Chi Chung Shek |
| author_facet | Toby Chun Hei Chan Hoi Ning Cheung Jasmine Chow Mei Tik Leung Sammy Pak Lam Chen Chi Chung Shek |
| author_sort | Toby Chun Hei Chan |
| collection | DOAJ |
| description | Abstract A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked recessive urea cycle disorders. Extensive family genetic screening eventually revealed paternal gonadosomatic mosaicism. |
| first_indexed | 2024-04-11T11:15:15Z |
| format | Article |
| id | doaj.art-a0ac5c945e034849ab213862d513577a |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T11:15:15Z |
| publishDate | 2022-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-a0ac5c945e034849ab213862d513577a2022-12-22T04:27:14ZengWileyClinical Case Reports2050-09042022-09-01109n/an/a10.1002/ccr3.6347Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritanceToby Chun Hei Chan0Hoi Ning Cheung1Jasmine Chow2Mei Tik Leung3Sammy Pak Lam Chen4Chi Chung Shek5Department of Pathology Queen Elizabeth Hospital Hong Kong ChinaDepartment of Pathology Queen Elizabeth Hospital Hong Kong ChinaDepartment of Paediatrics Queen Elizabeth Hospital Hong Kong ChinaDepartment of Pathology Queen Elizabeth Hospital Hong Kong ChinaDepartment of Pathology Queen Elizabeth Hospital Hong Kong ChinaDepartment of Pathology Queen Elizabeth Hospital Hong Kong ChinaAbstract A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked recessive urea cycle disorders. Extensive family genetic screening eventually revealed paternal gonadosomatic mosaicism.https://doi.org/10.1002/ccr3.6347genetic mosaicismhyperammonemiainborn errors of metabolismornithine transcarbamylase deficiency |
| spellingShingle | Toby Chun Hei Chan Hoi Ning Cheung Jasmine Chow Mei Tik Leung Sammy Pak Lam Chen Chi Chung Shek Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance Clinical Case Reports genetic mosaicism hyperammonemia inborn errors of metabolism ornithine transcarbamylase deficiency |
| title | Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance |
| title_full | Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance |
| title_fullStr | Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance |
| title_full_unstemmed | Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance |
| title_short | Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance |
| title_sort | hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father a peculiar pattern of x linked recessive inheritance |
| topic | genetic mosaicism hyperammonemia inborn errors of metabolism ornithine transcarbamylase deficiency |
| url | https://doi.org/10.1002/ccr3.6347 |
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