Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17
The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process. This is particularly challenging when both disorders affect the nervous system, leading to overlapping phenotypes. C...
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| Language: | Russian |
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ABV-press
2025-04-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/650 |
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| author | M. V. Sharova T. V. Markova A. L. Chukhrova O. A. Shchagina E. L. Dadali |
| author_facet | M. V. Sharova T. V. Markova A. L. Chukhrova O. A. Shchagina E. L. Dadali |
| author_sort | M. V. Sharova |
| collection | DOAJ |
| description | The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process. This is particularly challenging when both disorders affect the nervous system, leading to overlapping phenotypes. Congenital disorders of glycosylation, including the rare congenital 1i type caused by variants in the ALG2 gene, are characterized by psychomotor delay, microcephaly, seizures, hepatomegaly, and ophthalmological abnormalities. Joubert syndrome, associated with variants in the CPLANE1 gene, presents with brain malformations, severe psychomotor delay, oculomotor apraxia, and respiratory disturbances. In this study, we describe a patient with a rare combination of congenital disorders of glycosylation 1i type and Joubert syndrome type 17, caused by previously unreported variants in the ALG2 and CPLANE1 genes. This case highlights the diagnostic challenges and the need for a comprehensive approach in managing patients with multiple genetic disorders. |
| format | Article |
| id | doaj-art-c5fca32b46a545ffbc819c6e45b6b50a |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2025-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-c5fca32b46a545ffbc819c6e45b6b50a2025-08-20T03:38:16ZrusABV-pressНервно-мышечные болезни2222-87212413-04432025-04-01151677210.17650/2222-8721-2025-15-1-67-72410Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17M. V. Sharova0T. V. Markova1A. L. Chukhrova2O. A. Shchagina3E. L. Dadali4Research Centre for Medical Genetics;Research Centre for Medical Genetics;Research Centre for Medical Genetics;Research Centre for Medical Genetics;Research Centre for Medical Genetics;The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process. This is particularly challenging when both disorders affect the nervous system, leading to overlapping phenotypes. Congenital disorders of glycosylation, including the rare congenital 1i type caused by variants in the ALG2 gene, are characterized by psychomotor delay, microcephaly, seizures, hepatomegaly, and ophthalmological abnormalities. Joubert syndrome, associated with variants in the CPLANE1 gene, presents with brain malformations, severe psychomotor delay, oculomotor apraxia, and respiratory disturbances. In this study, we describe a patient with a rare combination of congenital disorders of glycosylation 1i type and Joubert syndrome type 17, caused by previously unreported variants in the ALG2 and CPLANE1 genes. This case highlights the diagnostic challenges and the need for a comprehensive approach in managing patients with multiple genetic disorders.https://nmb.abvpress.ru/jour/article/view/650joubert syndromecongenital disorder of glycosylationalg2cplane1double trouble phenomenon |
| spellingShingle | M. V. Sharova T. V. Markova A. L. Chukhrova O. A. Shchagina E. L. Dadali Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 Нервно-мышечные болезни joubert syndrome congenital disorder of glycosylation alg2 cplane1 double trouble phenomenon |
| title | Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
| title_full | Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
| title_fullStr | Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
| title_full_unstemmed | Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
| title_short | Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 |
| title_sort | phenotype expansion or double trouble the combination of congenital disorder of glycosylation type 1i and joubert syndrome type 17 |
| topic | joubert syndrome congenital disorder of glycosylation alg2 cplane1 double trouble phenomenon |
| url | https://nmb.abvpress.ru/jour/article/view/650 |
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