Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement...
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MDPI AG
2022-10-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/21/6415 |
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| author | Tayebeh Baranzehi Dor Mohammad Kordi-Tamandani Maryam Najafi Ali Khajeh Miriam Schmidts |
| author_facet | Tayebeh Baranzehi Dor Mohammad Kordi-Tamandani Maryam Najafi Ali Khajeh Miriam Schmidts |
| author_sort | Tayebeh Baranzehi |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis is often delayed due to the rarity of the conditions. Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in <i>TPP1</i> (NM_000391:c.C832T, (p.Q278*), rs1352347549). Moreover, we performed a comprehensive literature review regarding previously identified disease-causing TPP1 mutations and genotype-phenotype correlations. Conclusion: Depending on the type of mutation, different phenotypes are observed in patients with CLN2, suggesting that the severity of phenotypes is related to the genotype of the patients. |
| first_indexed | 2024-03-09T18:57:55Z |
| format | Article |
| id | doaj.art-a48c63841f434155bcc036a7cb29145d |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T18:57:55Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-a48c63841f434155bcc036a7cb29145d2023-11-24T05:17:17ZengMDPI AGJournal of Clinical Medicine2077-03832022-10-011121641510.3390/jcm11216415Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations UpdateTayebeh Baranzehi0Dor Mohammad Kordi-Tamandani1Maryam Najafi2Ali Khajeh3Miriam Schmidts4Departement of Biology, University of Sistan and Baluchestan, Zahedan 9816745845, IranDepartement of Biology, University of Sistan and Baluchestan, Zahedan 9816745845, IranPediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, 79106 Freiburg, GermanyDepartment of Pediatric, Children and Adolescent Health Research Center, Zahedan University of Medical Sciences, Zahedan 9816745845, IranPediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, 79106 Freiburg, GermanyNeuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis is often delayed due to the rarity of the conditions. Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in <i>TPP1</i> (NM_000391:c.C832T, (p.Q278*), rs1352347549). Moreover, we performed a comprehensive literature review regarding previously identified disease-causing TPP1 mutations and genotype-phenotype correlations. Conclusion: Depending on the type of mutation, different phenotypes are observed in patients with CLN2, suggesting that the severity of phenotypes is related to the genotype of the patients.https://www.mdpi.com/2077-0383/11/21/6415CLN2<i>TPP1</i> genec.C832TR278* |
| spellingShingle | Tayebeh Baranzehi Dor Mohammad Kordi-Tamandani Maryam Najafi Ali Khajeh Miriam Schmidts Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update Journal of Clinical Medicine CLN2 <i>TPP1</i> gene c.C832T R278* |
| title | Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update |
| title_full | Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update |
| title_fullStr | Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update |
| title_full_unstemmed | Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update |
| title_short | Identification of a <i>TPP1</i> Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update |
| title_sort | identification of a i tpp1 i q278x mutation in an iranian patient with neuronal ceroid lipofuscinosis 2 literature review and mutations update |
| topic | CLN2 <i>TPP1</i> gene c.C832T R278* |
| url | https://www.mdpi.com/2077-0383/11/21/6415 |
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