Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in las...
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| Format: | Article |
| Language: | English |
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BMC
2019-01-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-019-0753-7 |
| _version_ | 1831748975189819392 |
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| author | Ting Ge Xinyue Zhang Yongmei Xiao Yizhong Wang Ting Zhang |
| author_facet | Ting Ge Xinyue Zhang Yongmei Xiao Yizhong Wang Ting Zhang |
| author_sort | Ting Ge |
| collection | DOAJ |
| description | Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decades. Case presentation Here, we report a Chinese young child diagnosed as PFIC with variants in tight junction protein 2 (TJP2). The patient was affected by a long history of jaundice, pruritus, and failure to thrive. Highly elevated level of serum total bile acid (TBA) and normal levels of gamma-glutamyltransferase (GGT) were observed at hospitalization. The patient’s clinical symptoms could be alleviated by administration of ursodeoxycholic acid. Genetic testing by next generation sequencing (NGS) found novel compound heterozygote mutations c.2448 + 1G > C/c.2639delC (p.T880Sfs*12) in TJP2, which were inherited from her mother and father, respectively. Both mutations were predicted to abolish TJP2 protein translation, and neither has previously been identified. Conclusion We report a Chinese female PFIC child with novel compound heterozygous mutations of TJP2. Genetic testing by NGS is valuable in the clinical diagnosis of hereditary liver disease. |
| first_indexed | 2024-12-21T22:01:16Z |
| format | Article |
| id | doaj.art-3196f7788339431a9a85b629da47e9d8 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-21T22:01:16Z |
| publishDate | 2019-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-3196f7788339431a9a85b629da47e9d82022-12-21T18:48:49ZengBMCBMC Medical Genetics1471-23502019-01-012011610.1186/s12881-019-0753-7Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver diseaseTing Ge0Xinyue Zhang1Yongmei Xiao2Yizhong Wang3Ting Zhang4Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong UniversityDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong UniversityDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong UniversityDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong UniversityDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong UniversityAbstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decades. Case presentation Here, we report a Chinese young child diagnosed as PFIC with variants in tight junction protein 2 (TJP2). The patient was affected by a long history of jaundice, pruritus, and failure to thrive. Highly elevated level of serum total bile acid (TBA) and normal levels of gamma-glutamyltransferase (GGT) were observed at hospitalization. The patient’s clinical symptoms could be alleviated by administration of ursodeoxycholic acid. Genetic testing by next generation sequencing (NGS) found novel compound heterozygote mutations c.2448 + 1G > C/c.2639delC (p.T880Sfs*12) in TJP2, which were inherited from her mother and father, respectively. Both mutations were predicted to abolish TJP2 protein translation, and neither has previously been identified. Conclusion We report a Chinese female PFIC child with novel compound heterozygous mutations of TJP2. Genetic testing by NGS is valuable in the clinical diagnosis of hereditary liver disease.http://link.springer.com/article/10.1186/s12881-019-0753-7Autosomal recessive disorderChildCompound heterozygote mutationsProgressive cholestatic liver diseaseTJP2 |
| spellingShingle | Ting Ge Xinyue Zhang Yongmei Xiao Yizhong Wang Ting Zhang Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease BMC Medical Genetics Autosomal recessive disorder Child Compound heterozygote mutations Progressive cholestatic liver disease TJP2 |
| title | Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease |
| title_full | Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease |
| title_fullStr | Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease |
| title_full_unstemmed | Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease |
| title_short | Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease |
| title_sort | novel compound heterozygote mutations of tjp2 in a chinese child with progressive cholestatic liver disease |
| topic | Autosomal recessive disorder Child Compound heterozygote mutations Progressive cholestatic liver disease TJP2 |
| url | http://link.springer.com/article/10.1186/s12881-019-0753-7 |
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