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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutatio...

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Autores principales: Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Krasnenko, Anna Yurievna, Tsukanov, Kirill Yurievich, Klimchuk, Olesya Igorevna, Kondakova, Olga Borisovna, Larionova, Anna Nikolaevna, Batysheva, Tatyana Timofeevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109285/
https://www.ncbi.nlm.nih.gov/pubmed/30144815
http://dx.doi.org/10.1186/s12881-018-0669-7
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author Kozina, Anastasiya Aleksandrovna
Okuneva, Elena Grigorievna
Baryshnikova, Natalia Vladimirovna
Krasnenko, Anna Yurievna
Tsukanov, Kirill Yurievich
Klimchuk, Olesya Igorevna
Kondakova, Olga Borisovna
Larionova, Anna Nikolaevna
Batysheva, Tatyana Timofeevna
Surkova, Ekaterina Ivanovna
Shatalov, Peter Alekseevich
Ilinsky, Valery Vladimirovich
author_facet Kozina, Anastasiya Aleksandrovna
Okuneva, Elena Grigorievna
Baryshnikova, Natalia Vladimirovna
Krasnenko, Anna Yurievna
Tsukanov, Kirill Yurievich
Klimchuk, Olesya Igorevna
Kondakova, Olga Borisovna
Larionova, Anna Nikolaevna
Batysheva, Tatyana Timofeevna
Surkova, Ekaterina Ivanovna
Shatalov, Peter Alekseevich
Ilinsky, Valery Vladimirovich
author_sort Kozina, Anastasiya Aleksandrovna
collection PubMed
description BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutations in 13 genes are known. CASE PRESENTATION: We report clinical and genetic characteristics of a 5-year-old girl affected by ceroid lipofuscinosis type 7 (NCL7). She had progressive motor and mental deterioration since the age of 2,5 years. Later she developed progressive vision loss, stereotypies, action myoclonus and epilepsy. By the age of 5 years she stopped walking. Based on symptoms, diagnosis of Rett syndrome was suggested, but no abnormalities were detected in MeCP2. We identified a novel homozygous mutation in MFSD8 gene (c.525 T > A, p.Cys175Ter). To our knowledge, this is the first report of MFSD8 gene mutation in a Russian patient with variant late-infantile NCL. CONCLUSIONS: Our results enlarge mutational spectrum of ceroid lipofuscinosis type 7 and demonstrate tremendous diagnosis value of exome sequencing for pediatric NCLs. Also we confirmed that NCL should be suspected in patients with Rett-like phenotype at onset and negative MECP2 mutation.
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spelling pubmed-61092852018-08-29 A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report Kozina, Anastasiya Aleksandrovna Okuneva, Elena Grigorievna Baryshnikova, Natalia Vladimirovna Krasnenko, Anna Yurievna Tsukanov, Kirill Yurievich Klimchuk, Olesya Igorevna Kondakova, Olga Borisovna Larionova, Anna Nikolaevna Batysheva, Tatyana Timofeevna Surkova, Ekaterina Ivanovna Shatalov, Peter Alekseevich Ilinsky, Valery Vladimirovich BMC Med Genet Case Report BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutations in 13 genes are known. CASE PRESENTATION: We report clinical and genetic characteristics of a 5-year-old girl affected by ceroid lipofuscinosis type 7 (NCL7). She had progressive motor and mental deterioration since the age of 2,5 years. Later she developed progressive vision loss, stereotypies, action myoclonus and epilepsy. By the age of 5 years she stopped walking. Based on symptoms, diagnosis of Rett syndrome was suggested, but no abnormalities were detected in MeCP2. We identified a novel homozygous mutation in MFSD8 gene (c.525 T > A, p.Cys175Ter). To our knowledge, this is the first report of MFSD8 gene mutation in a Russian patient with variant late-infantile NCL. CONCLUSIONS: Our results enlarge mutational spectrum of ceroid lipofuscinosis type 7 and demonstrate tremendous diagnosis value of exome sequencing for pediatric NCLs. Also we confirmed that NCL should be suspected in patients with Rett-like phenotype at onset and negative MECP2 mutation. BioMed Central 2018-08-25 /pmc/articles/PMC6109285/ /pubmed/30144815 http://dx.doi.org/10.1186/s12881-018-0669-7 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Kozina, Anastasiya Aleksandrovna
Okuneva, Elena Grigorievna
Baryshnikova, Natalia Vladimirovna
Krasnenko, Anna Yurievna
Tsukanov, Kirill Yurievich
Klimchuk, Olesya Igorevna
Kondakova, Olga Borisovna
Larionova, Anna Nikolaevna
Batysheva, Tatyana Timofeevna
Surkova, Ekaterina Ivanovna
Shatalov, Peter Alekseevich
Ilinsky, Valery Vladimirovich
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title_full A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title_fullStr A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title_full_unstemmed A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title_short A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
title_sort novel mfsd8 mutation in a russian patient with neuronal ceroid lipofuscinosis type 7: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109285/
https://www.ncbi.nlm.nih.gov/pubmed/30144815
http://dx.doi.org/10.1186/s12881-018-0669-7
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