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Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities,...

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Autores principales: Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871926/
https://www.ncbi.nlm.nih.gov/pubmed/36703628
http://dx.doi.org/10.3389/fneur.2022.1113811
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author Horn, Svea
Danyel, Magdalena
Erdmann, Nina
Boschann, Felix
Gunnarsson, Cecilia
Biskup, Saskia
Juengling, Jerome
Potratz, Cornelia
Prager, Christine
Kaindl, Angela M.
author_facet Horn, Svea
Danyel, Magdalena
Erdmann, Nina
Boschann, Felix
Gunnarsson, Cecilia
Biskup, Saskia
Juengling, Jerome
Potratz, Cornelia
Prager, Christine
Kaindl, Angela M.
author_sort Horn, Svea
collection PubMed
description Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities, and epilepsy. Only about 15 affected individuals have been described in the literature, all with primary or secondary macrocephaly. Using exome sequencing, we identified three different biallelic variants in KPTN in five affected individuals from three unrelated families. In total, two KPTN variants were already reported as a loss of function variants. A novel splice site variant in KPTN was detected in two unrelated families of this study. The core phenotype with neurodevelopment delay was present in all patients. However, macrocephaly was not present in at least one patient. In total, two patients exhibited developmental and epileptic encephalopathies with generalized tonic-clonic seizures that were drug-resistant in one of them. Thus, we further delineate the KPTN-related syndrome, especially emphasizing the severity of epilepsy phenotypes and difficulties in treatment in patients of our cohort.
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spelling pubmed-98719262023-01-25 Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy Horn, Svea Danyel, Magdalena Erdmann, Nina Boschann, Felix Gunnarsson, Cecilia Biskup, Saskia Juengling, Jerome Potratz, Cornelia Prager, Christine Kaindl, Angela M. Front Neurol Neurology Biallelic variants in the kaptin gene KPTN were identified recently in individuals with a novel syndrome referred to as autosomal recessive intellectual developmental disorder 41 (MRT41). MRT41 is characterized by developmental delay, predominantly in language development, behavioral abnormalities, and epilepsy. Only about 15 affected individuals have been described in the literature, all with primary or secondary macrocephaly. Using exome sequencing, we identified three different biallelic variants in KPTN in five affected individuals from three unrelated families. In total, two KPTN variants were already reported as a loss of function variants. A novel splice site variant in KPTN was detected in two unrelated families of this study. The core phenotype with neurodevelopment delay was present in all patients. However, macrocephaly was not present in at least one patient. In total, two patients exhibited developmental and epileptic encephalopathies with generalized tonic-clonic seizures that were drug-resistant in one of them. Thus, we further delineate the KPTN-related syndrome, especially emphasizing the severity of epilepsy phenotypes and difficulties in treatment in patients of our cohort. Frontiers Media S.A. 2023-01-10 /pmc/articles/PMC9871926/ /pubmed/36703628 http://dx.doi.org/10.3389/fneur.2022.1113811 Text en Copyright © 2023 Horn, Danyel, Erdmann, Boschann, Gunnarsson, Biskup, Juengling, Potratz, Prager and Kaindl. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Horn, Svea
Danyel, Magdalena
Erdmann, Nina
Boschann, Felix
Gunnarsson, Cecilia
Biskup, Saskia
Juengling, Jerome
Potratz, Cornelia
Prager, Christine
Kaindl, Angela M.
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title_full Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title_fullStr Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title_full_unstemmed Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title_short Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
title_sort case report: kptn gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871926/
https://www.ncbi.nlm.nih.gov/pubmed/36703628
http://dx.doi.org/10.3389/fneur.2022.1113811
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