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Identification of a TPP1 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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Autores principales: Baranzehi, Tayebeh, Kordi-Tamandani, Dor Mohammad, Najafi, Maryam, Khajeh, Ali, Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653935/
https://www.ncbi.nlm.nih.gov/pubmed/36362641
http://dx.doi.org/10.3390/jcm11216415
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author Baranzehi, Tayebeh
Kordi-Tamandani, Dor Mohammad
Najafi, Maryam
Khajeh, Ali
Schmidts, Miriam
author_facet Baranzehi, Tayebeh
Kordi-Tamandani, Dor Mohammad
Najafi, Maryam
Khajeh, Ali
Schmidts, Miriam
author_sort Baranzehi, Tayebeh
collection PubMed
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 TPP1 (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.
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spelling pubmed-96539352022-11-15 Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update Baranzehi, Tayebeh Kordi-Tamandani, Dor Mohammad Najafi, Maryam Khajeh, Ali Schmidts, Miriam J Clin Med Article 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 TPP1 (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. MDPI 2022-10-29 /pmc/articles/PMC9653935/ /pubmed/36362641 http://dx.doi.org/10.3390/jcm11216415 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Baranzehi, Tayebeh
Kordi-Tamandani, Dor Mohammad
Najafi, Maryam
Khajeh, Ali
Schmidts, Miriam
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title_full Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title_fullStr Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title_full_unstemmed Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title_short Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update
title_sort identification of a tpp1 q278x mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653935/
https://www.ncbi.nlm.nih.gov/pubmed/36362641
http://dx.doi.org/10.3390/jcm11216415
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