Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
Abstract Background Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer. Cas...
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| Format: | Article |
| Language: | English |
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BMC
2020-08-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-020-01096-w |
| _version_ | 1818622204073476096 |
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| author | Shanshan Xu Qun Lian Jinzhun Wu Lingli Li Jia Song |
| author_facet | Shanshan Xu Qun Lian Jinzhun Wu Lingli Li Jia Song |
| author_sort | Shanshan Xu |
| collection | DOAJ |
| description | Abstract Background Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer. Case presentation A 6-year-10-month-old boy characterized by special facial features, short stature and mental retardation was referred to our pediatric endocrinology department. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease. This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother. These two variants are classified as pathogenic and the causes of the presentation in this child. This patient’s father and mother have subsequently been diagnosed as having OCNDS and TRPSI respectively. Conclusion This is the first reported case of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in the same patient. This patient is the first published example of vertical transmission of this recurrent CSN2A1 variant from parent to child. A novel variant in the TRPS1 gene that is pathogenic was also identified. In conclusion, identification of the variants in this patient expands the phenotypes and molecular basis of dual Mendelian diseases. |
| first_indexed | 2024-12-16T18:21:27Z |
| format | Article |
| id | doaj.art-56b42662591842a6b268ec814c7a48c6 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-16T18:21:27Z |
| publishDate | 2020-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-56b42662591842a6b268ec814c7a48c62022-12-21T22:21:32ZengBMCBMC Medical Genetics1471-23502020-08-012111610.1186/s12881-020-01096-wDual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case reportShanshan Xu0Qun Lian1Jinzhun Wu2Lingli Li3Jia Song4Department of Pediatrics, The First Affiliated Hospital of Xiamen UniversityDepartment of Pediatrics, The First Affiliated Hospital of Xiamen UniversityDepartment of Pediatrics, The First Affiliated Hospital of Xiamen UniversityDepartment of Pediatrics, The First Affiliated Hospital of Xiamen UniversityDepartment of Pediatrics, The First Affiliated Hospital of Xiamen UniversityAbstract Background Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer. Case presentation A 6-year-10-month-old boy characterized by special facial features, short stature and mental retardation was referred to our pediatric endocrinology department. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease. This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother. These two variants are classified as pathogenic and the causes of the presentation in this child. This patient’s father and mother have subsequently been diagnosed as having OCNDS and TRPSI respectively. Conclusion This is the first reported case of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in the same patient. This patient is the first published example of vertical transmission of this recurrent CSN2A1 variant from parent to child. A novel variant in the TRPS1 gene that is pathogenic was also identified. In conclusion, identification of the variants in this patient expands the phenotypes and molecular basis of dual Mendelian diseases.http://link.springer.com/article/10.1186/s12881-020-01096-wCSNK2A1TRPS1Tricho-rhino-phalangeal syndrome type IOkur-Chung neurodevelopmental syndromeDual molecular diagnosisCase report |
| spellingShingle | Shanshan Xu Qun Lian Jinzhun Wu Lingli Li Jia Song Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report BMC Medical Genetics CSNK2A1 TRPS1 Tricho-rhino-phalangeal syndrome type I Okur-Chung neurodevelopmental syndrome Dual molecular diagnosis Case report |
| title | Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report |
| title_full | Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report |
| title_fullStr | Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report |
| title_full_unstemmed | Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report |
| title_short | Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report |
| title_sort | dual molecular diagnosis of tricho rhino phalangeal syndrome type i and okur chung neurodevelopmental syndrome in one chinese patient a case report |
| topic | CSNK2A1 TRPS1 Tricho-rhino-phalangeal syndrome type I Okur-Chung neurodevelopmental syndrome Dual molecular diagnosis Case report |
| url | http://link.springer.com/article/10.1186/s12881-020-01096-w |
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